An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
A mononuclear Fe(II)-dependent oxygenase, this enzyme catalyzes the conversion of homogentisate to 4-maleylacetoacetate, the third step in the pathway for the catabolism of TYROSINE. Deficiency in the enzyme causes ALKAPTONURIA, an autosomal recessive disorder, characterized by homogentisic aciduria, OCHRONOSIS and ARTHRITIS. This enzyme was formerly characterized as EC 1.13.1.5 and EC 1.99.2.5.
The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES).
An enzyme that catalyzes the conversion of 4-hydroxyphenylpyruvate plus oxygen to homogentisic acid and carbon dioxide. EC 1.13.11.27.
Cyclohexane ring substituted by one or more ketones in any position.
Non-heme iron-containing enzymes that incorporate two atoms of OXYGEN into the substrate. They are important in biosynthesis of FLAVONOIDS; GIBBERELLINS; and HYOSCYAMINE; and for degradation of AROMATIC HYDROCARBONS.
Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.
Benzoic acid or benzoic acid esters substituted with one or more nitro groups.
General disorders of the sclera or white of the eye. They may include anatomic, embryologic, degenerative, or pigmentation defects.
Oxidases that specifically introduce DIOXYGEN-derived oxygen atoms into a variety of organic molecules.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
Messages between computer users via COMPUTER COMMUNICATION NETWORKS. This feature duplicates most of the features of paper mail, such as forwarding, multiple copies, and attachments of images and other file types, but with a speed advantage. The term also refers to an individual message sent in this way.
The study of natural phenomena by observation, measurement, and experimentation.
Disciplines concerned with the interrelationships of individuals in a social environment including social organizations and institutions. Includes Sociology and Anthropology.
All of the divisions of the natural sciences dealing with the various aspects of the phenomena of life and vital processes. The concept includes anatomy and physiology, biochemistry and biophysics, and the biology of animals, plants, and microorganisms. It should be differentiated from BIOLOGY, one of its subdivisions, concerned specifically with the origin and life processes of living organisms.
Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)
A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists.
Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)
A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
A group of compounds that are derivatives of phenylpyruvic acid which has the general formula C6H5CH2COCOOH, and is a metabolite of phenylalanine. (From Dorland, 28th ed)

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). (1/39)

We recently showed that alkaptonuria (AKU) is caused by loss-of-function mutations in the homogentisate 1,2 dioxygenase gene (HGO). Herein we describe haplotype and mutational analyses of HGO in seven new AKU pedigrees. These analyses identified two novel single-nucleotide polymorphisms (INV4+31A-->G and INV11+18A-->G) and six novel AKU mutations (INV1-1G-->A, W60G, Y62C, A122D, P230T, and D291E), which further illustrates the remarkable allelic heterogeneity found in AKU. Reexamination of all 29 mutations and polymorphisms thus far described in HGO shows that these nucleotide changes are not randomly distributed; the CCC sequence motif and its inverted complement, GGG, are preferentially mutated. These analyses also demonstrated that the nucleotide substitutions in HGO do not involve CpG dinucleotides, which illustrates important differences between HGO and other genes for the occurrence of mutation at specific short-sequence motifs. Because the CCC sequence motifs comprise a significant proportion (34.5%) of all mutated bases that have been observed in HGO, we conclude that the CCC triplet is a mutational hot spot in HGO.  (+info)

Allelic heterogeneity of alkaptonuria in Central Europe. (2/39)

Defects of the homogentisate 1,2 dioxygenase (HGO; E.C. No. 1.13.11.5) have been identified as the molecular cause of alkaptonuria in humans (AKU) and the aku mouse. Here, we report on the genetic basis of 30 AKU patients from Central Europe. In addition to five mutations described previously, we have detected five novel HGO mutations. Recombinant expression of mutated HGO enzymes in E. coli demonstrates the inactivating effect of three of these mutations. A genetic epidemiologic study in Slovakia, the country with the highest incidence of alkaptonuria, demonstrates that two recurrent mutations (c.183-1G > A and Glyl61Arg) are found on more than 50% of AKU chromosomes. An analysis of the allelic association with intragenic DNA markers and of the geographic origins of the AKU chromosomes suggests that several independent founders have contributed to the gene pool, and that subsequent genetic isolation is likely to be responsible for the high prevalence of alkaptonuria in Slovakia.  (+info)

Mutational analysis of the HGO gene in Finnish alkaptonuria patients. (3/39)

Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations in the homogentisate-1,2-dioxygenase gene (HGO). So far 17 mutations have been characterised in AKU patients of different ethnic origin. We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees. The three novel AKU mutations are most likely specific for the Finnish population and have originated recently.  (+info)

Structural and functional analysis of mutations in alkaptonuria. (4/39)

Alkaptonuria (AKU), the prototypic inborn error of metabolism, was the first human disease to be interpreted as a Mendelian trait by Garrod and Bateson at the beginning of last century. AKU results from impaired function of homogentisate dioxygenase (HGO), an enzyme required for the catabolism of phenylalanine and tyrosine. With the novel 7 AKU and 22 fungal mutations reported here, a total of 84 mutations impairing this enzyme have been found in the HGO gene from humans and model organisms. Forty-three of these mutations result in single amino acid substitutions. This mutational information is analysed here in the context of the HGO structure and function using kinetic assays performed using purified AKU mutant enzymes and the crystal structure of human HGO. HGO is a topologically complex structure which assembles as a functional hexamer arranged as a dimer of trimers. We show how the intricate pattern of intra- and inter-subunit interactions and the extensive surfaces required for subunit folding and association of this oligomeric enzyme can be inactivated at multiple levels by single-residue substitutions. This explains, in part, the predominance of missense mutations (67%) in AKU.  (+info)

High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. (5/39)

Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 dioxygenase (HGO) activity. AKU shows a very low prevalence (1:100,000-250,000) in most ethnic groups. One notable exception is in Slovakia, where the incidence of AKU rises to 1:19,000. This high incidence is difficult to explain by a classical founder effect, because as many as 10 different AKU mutations have been identified in this relatively small country. We have determined the allelic associations of 11 HGO intragenic polymorphisms for 44 AKU chromosomes from 20 Slovak pedigrees. These data were compared to the HGO haplotype data available in our laboratory for >80 AKU chromosomes from different European and non-European countries. The results show that common European AKU chromosomes have had only a marginal contribution to the Slovak AKU gene pool. Six of the ten Slovak AKU mutations, including the prevalent G152fs, G161R, G270R, and P370fs mutations, most likely originated in Slovakia. Data available for 17 Slovak AKU pedigrees indicate that most of the AKU chromosomes have their origins in a single very small region in the Carpathian mountains, in the northwestern part of the country. Since all six Slovak AKU mutations are associated with HGO mutational hot spots, we suggest that an increased mutation rate at the HGO gene is responsible for the clustering of AKU mutations in such a small geographical region.  (+info)

Screening for inherited metabolic disease in Wales using urine-impregnated filter paper. (6/39)

Urine specimens from 135 295 infants have been collected on filter papers and tested for 7 abnormal urinary constituents using spot tests and paper chromatography. The method has detected 5 infants with phenylketonuria, 4 with histidinaemia, 5 with cystinuria, 5 with diabetes mellitus, and one with alcaptonuria. Transient abnormalities such as tyrosyluria, generalized aminoaciduria, cystinuria, and glycosuria have been noted. 2 phenylketonuric infants failed to excrete a detectable quantity of o-hydroxyphenlacetic acid at the time of testing. The findings show that the detection of this compound in urine is an unreliable method of screening for phenylketonuria.  (+info)

Natural history of alkaptonuria. (7/39)

BACKGROUND: Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. There is no effective therapy for this disorder, although nitisinone inhibits the enzyme that produces HGA. We performed a study to delineate the natural history of alkaptonuria. METHODS: We evaluated 58 patients with alkaptonuria (age range, 4 to 80 years), using clinical, radiographic, biochemical, and molecular methods. A radiographic scoring system was devised to assess the severity of spinal and joint damage. Two patients were treated with nitisinone for 10 and 9 days, respectively. RESULTS: Life-table analyses showed that joint replacement was performed at a mean age of 55 years and that renal stones developed at 64 years, cardiac-valve involvement at 54 years, and coronary-artery calcification at 59 years. Linear regression analysis indicated that the radiographic score for the severity of disease began increasing after the age of 30 years, with a more rapid increase in men than in women. Twenty-three new HGO mutations were identified. In a 51-year-old woman, urinary HGA excretion fell from 2.9 to 0.13 g per day after a 10-day course of nitisinone (7 days at a dose of 0.7 mg per day and 3 days at 2.8 mg per day). In a 59-year-old woman, urinary HGA fell from 6.4 g to 1.7 g per day after nine days of treatment with nitisinone (0.7 mg per day). Plasma tyrosine levels in these patients rose from approximately 1.1 mg per deciliter (60 micromol per liter) in both to approximately 12.8 mg per deciliter (700 micromol per liter) and 23.6 mg per deciliter (1300 micromol per liter), respectively, with no clinical signs or symptoms. CONCLUSIONS: The reported data on the natural history of alkaptonuria provide a basis for the evaluation of long-term therapies. Although nitisinone can reduce HGA production in humans with homogentisate 1,2-dioxygenase deficiency, the long-term safety and efficacy of this treatment require further evaluation.  (+info)

Spontaneous tendon ruptures in alkaptonuria. (8/39)

Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of the spine and weight-bearing joints. Symptoms related to degeneration of tendons or ligaments with spontaneous ruptures have not previously been reported. Three patients are described with four spontaneous ruptures of either the patellar tendon or tendo Achillis as the first symptom of alkaptonuria.  (+info)

The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease. In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes. Some patients also develop kidney stones and heart valve problems. Alkaptonuria has not been studied for decades; and scientists expect to gain comprehensive clinical information using current medical techniques.. Patients with alkaptonuria who are at least one month old may be eligible for this study. Participants will be evaluated at NIH s Clinical Center for 5 days every 2 to 3 years. They will have a medical history, physical examination, routine blood and urine tests. Blood may also be collected to measure a type of collagen that indicates new bone formation and to analyze DNA for genetic studies. ...
Get information, facts, and pictures about Alkaptonuria at Encyclopedia.com. Make research projects and school reports about Alkaptonuria easy with credible articles from our FREE, online encyclopedia and dictionary.
BACKGROUND: Alkaptonuria (AKU) is a rare metabolic disease caused by deficiency of homogentisate 1,2 dioxygenase, an enzyme involved in tyrosine catabolism, resulting in increased circulating homogentisic acid (HGA). Over time HGA is progressively deposited as a polymer (termed ochronotic pigment) in collagenous tissues, especially the cartilages of weight bearing joints, leading to severe joint disease. OBJECTIVES: To characterise blood biochemistry and arthropathy in the AKU mouse model (Hgd-/-). To examine the therapeutic effect of long-term treatment with nitisinone, a potent inhibitor of the enzyme that produces HGA. METHODS: Lifetime levels of plasma HGA from AKU mice were measured by high-performance liquid chromatography (HPLC). Histological sections of the knee joint were examined for pigmentation. The effect of nitisinone treatment in both tissues was examined. RESULTS: Mean (±SE) plasma HGA levels were 3- to 4-fold higher (0.148±0.019 mM) than those recorded in human AKU. ...
This is a proposal to develop the orphan designated drug, nitisinone, for the treatment of a rare Mendelian disease, Alkaptonuria (AKU). Thanks to our existing successful fundamental and clinical research (cell models, animal models, natural history studies), we are now ready for this final stage of clinical development of nitisinone for AKU: a phase 3 clinical trial to prove efficacy. The results of DevelopAKUre will allow us to make the case to the European Medicines Agency for marketing authorisation of nitisinone for AKU, thereby contributing to the goal of the International Rare Diseases Research Consortium of developing 200 new therapies by 2020 ...
Taylor, Adam Michael and Hsueh, Ming-Feng and Ranganath, Lakshminarayan and Gallagher, James and Huebner, Janet and Catterall, Jon and Byers Kraus, Virginia (2011) Analysis of cartilage biomarkers of aging and turnover in the osteoarthropathy of alkaptonuria. In: UNSPECIFIED. Full text not available from this repository ...
Alkaptonuria may present with symptoms and signs such as severe arthritis of the fingers, and joints of the knee, arthralgia and pigmentation of the neck, ears, thorax, conjunctiva and nasal bridge.
Archibald Garrod was the son of the physician, Alfred Baring Garrod, who diagnosed and studied rheumatoid arthritis. Although his father initially intended for Archibald to study business, his teachers recognized and encouraged him to go into the field of science and medicine. Garrod studied medicine at Oxford University and became a physician.. Garrod was studying the human disorder alkaptonuria. He collected family history information (as well as urine) from his patients. Based on discussions with Mendel advocate William Bateson, Garrod deduced that alkaptonuria is a recessive disorder. In 1902, Garrod published a book called The Incidence of Alkaptonuria: a Study in Chemical Individuality. This is the first published account of a case of recessive inheritance in humans.. Garrod was also the first to propose the idea that diseases were inborn errors of metabolism. He believed that diseases were the result of missing or false steps in the bodys chemical pathways. In 1923, his studies on ...
sory yek kawan2....mulai beberapa hari ni aku dah mula tak sedap badan..tekak..kepala..pantang celik mata..mulalah rasa loya..nak muntah..kepala pun agak pusing2..jadik sebab tu aku jarang update blog sekarang..baca blog kawan2 pun..baca2 gitu je..tak tinggal komen pun..ade mood adela aku tinggalkan..tapi utk tidak mghampakan..sape2 yg tag aku..aku akan cube selesaikan secepat mgkin sebelum kemalasan aku lebih meningkat tahapnyee..aku perasan..peknen kali ni aku jadi seorang yg agak malas!!mesti ade yg pikir..anak lelaki agaknye kali ni....tapi tu semua takleh jadik petunjuk..sebab masa mengandungkan ukail , aku adalah seorang yg sangat rajin!!sampai orang2 ingat aku bakal dpt baby girl........apapun..cukup dulu..lain masa aku cube gagahkan diri key ...
Pain management information for pain medicine healthcare professionals in treating and caring for their patients. Clinical Pain Advisor offers news, case studies and more.
Führend in der deutschen Anästhesiologie - die auflagenstärkste Fachzeitschrift für Anästhesie, Intensivmedizin, Notfallmedizin und Schmerztherapie
Aku memang rajin berpeluh ( even aku sorang yang tidak gemuk ;D ) tapi x la sampai tahap hyper. So pada siapa² yg x tau saje aku nk bagitau. ( Ade orang yang gelii kt aku, yela jln sikit peluh dah laju je mengalir, kadang² agak terase gak la hati jantan ku ini haha). Kalau tapak tangan tak lah selalu sangat, tapi time aku gelabah, nervous ke ha time 2 memang rajin betul peluh aku keluar. Pape pun kene terima jugak, kawan aku pon ade 4, 5 orang dapat sakit camni. Aku paham korang, aku patut bersyukur. Ade oarang tu peluh dia keluar 3 kali ganda hyper daripada aku ...
salam.....ary nie bes ckit la....coz aku x derk class malam....n xtvt pun tade malam nie..n bley la aku nak online.....hehe..bercakap psal online...skunk nie aku hanya boley online kat computer lab jer..tu pun sementara na menunggu lec aku datang....kalu x...x sempat la aku nak jalan2 kat blog org laen...hehe...pasal broadband plak..erm....ader masalah ckit ngn BB..so x ley la nak online jgk....nie pun aku rembat BB roomate aku..hehhe...bru balik dari pasar malam kat uitm nie brape jam yang lepas....nmpknya ley la aku menjimatkan ckit money aku kan...besela la tgk macam2 aneka makanan nie..nafsu makan pun bertambah2 la....money pun banyak la mengalir keluar..hehe...erm...sedar x sedar..bape ary jer bulan ramadan nak menjelma.....tido..bagun...tido ...bangun....da 1 ramadan..erm...hope bulan nie aku ley pose penuh...(macam boley jer kan!!!)hahaha...k...selamt malam....sweet dreams ...
Aku mula rasa resah bila saat2 yang ditunggu-tunggu akan tiba khamis ini(26/5)...Aku cube tuk lelapkan mata tapi still xbole lg...arrrggg geram pun ada...sok pagi da nak kena pergi temuduga..(dalam hati tuhan je yang tahu)..Aku cube jugak tido dan akhirnya aku berjaya lelapkan mata aku nie..hehe..tibe2 aku terjage dengar bunyi loceng nset..arkkkkk nape kejap sangat tido..Ngantoknyee...tengok jam bawu je pukul 0430 pagi....nak x nak kena jugak la bangun...Bangun je terus aku kemas tempat tido tp waktu tuh xde sape pun lagi yang bangun cume aku sorang je..xpe...aku gagahkan jugak diri nie..aku p mandi ..da siap mandi aku wat solat sunat...segala solat sunat aku wat..heheh...(RAJINNYA)..lepas solat sunat aku p kat meja aku terus baca segala info2 yang aku da tulis lam buku nota aku tuh..aku bace dan cube fahamkan atau aku cube hafal segala yang aku tulis tuh..banyak jugak..argggg...tension...lepas tuh aku tinggal je nota tuh...bile aku paling je ke jam..aku nampak jarum pendek kat pukul 5 n jarum ...
lalu kali ini aku nekad dan aku berjanji pada diri sendiri...aku tak akan lagi membiarkan kenangan itu terus menghuni dalam sudut hati aku..walau apa pun aku bersyukur walaupun kebahagiaan itu tidak lama tapi cukuplah untuk membuat aku berasa gembira walau untuk sementara waktu..dan biarlah ianya terus kukenang sebagai sebahagian daripada kenangan terindah dalam hidup aku..aku mahu buang jauh2 semua apa yg dah berlaku, aku tak akan membiarkan lagi hati aku kalah dengan ceritera ini... ...
Lately aku mmg bz yang amat2... Blk kerja selambat2nya hari2... Sabtu ahad cuti perlu kerja... Sedar tak sedar aku telang menyinggungkan/ mengecikkan/ or erti kata lain mengabaikan orang2 yang aku sayangi serta menyayangi aku... Tetapi aku tiada peluang, aku harus menyudahkan segala urusan yg telah aku mulakan... Nak duit, kene kerja keras.. Skarang aku bukan diuji sbg pekerja lagi dah.. Aku diuji sekiranya satu masa nanti jika aku juga menjadi owner di dalam satu2 bisnes... Aku diuji sebagai seorang usahawan dimana dalam perniagaan itu pasti akan ada turun naiknya.. Dan aku boleh bayangkan bagaimana sekiranya perniagaan aku merudum, dan semua org lari... Jadi, dengan rasa tanggung jawab aku berusaha bersama2 untuk meneruskan apa yang mampu... Aku yakin, segala yang berlaku pasti ada hikmahnya.. Semua yang terjadi telah tertulis... Namun yang demikian aku alpa, aku lupa... Aku lupa aku punya tanggung jawab lain yang lbh penting.. Aku lupa aku juga seorang isteri yang perlu memberi perhatian ...
dlm post aku sblm nie,aku ada cerita mengenai menses aku kembali normal bermula Disember 2010 hingga lah aku disahkan keguguran pada Mac 2011...sblm aku keguguran,aku ada bertemujanji ngan klinik pada 24 Januari 2011...dgn bangganya aku bgtau doktor,period ku dah on bulan2 skrg...doktor cakap,aku kena check hormon lagi utk hari ke 21 selepas menses dan hari ke 2 menses sterusnya...kedua2nya dgn jayanya telah ku lakukan pada Februari 2011...tp resultnya keluar selepas aku keguguran pada Mac 2011...result ini lah yg membuatkan aku percaya aku mmg keguguran....sbb masa aku keguguran,aku langsung tak tahu aku mengandung...keluarga & kawan2 pun tidak percaya aku mengandung...maybe disebabkan aku gemuk jd mereka tak percaya aku bleh mengandung...tp result hormon progesteron aku normal buat pertama kalinya...itu yg aku sebalkan di sini...result itu menunjukkan aku mmg bertelur pada cycle Februari 2011,jd tidak mustahil aku pregnant dan keguguran ...
Ehh..... Mahathir Lokman. The famous voice. Aku suka dengar suara dia dan karisma dia semasa mengendalikan majlis. Bule ke aku jadi macam dia jugak? Ermm..aku cuma pandai cakap melayu and sket-sket English. Arab bule laaa...sket sangat..lain-lain aku tatau. Time to catch up with Language Classes? Bonjour..!!. Gambar Mahathir Lokman diambil selepas lawatan Pak Lah. Pak Lah tak singgah pun kat booth kami. Mujur jugak kami tak gedik-gedik sangat nak jumpa Pak Lah. Cukuplah tengok dari jarak kurang 5 meter. Pak Lah ni pada aku nampak muka lembut tp he rules the country. Ermm..bule ke aku buat macam dia? Rilek je bila orang kutuk aku? Semalam pun kena kutuk ngan Kak C. Ahakss. Ayat biasa dia... Bijak ye u all ni. Buat keje mudah je. Takde scientific research tapi keluar product,. Ye kak C. Cuba tengok poster. Ni ada FTIR, ada SEM photomicrograph,. Macam biasalah. Apapun aku explain dia takkan terima jugak. Biar jelah. Dulu aku kena lagi teruk dengan dia..biarkan aje. Dia dah tahap tinggi sangat ...
So aku dpt mc aje pas2 dpt ubat demam. Balik dari spital tu lah bermula penderitaan aku huhuhu .. seksanya kena denggi ni .. bygkan tak lalu nak makan, pas2 asik nak muntah ajer .. bila aku nak bangun, mesti aku rasa melayang nak jatuh. En Bard aku ajak g spital tp hari Ahad tu mcm dah elok sket sbb aku telan ubat migrain sbb x tahan sgt sakit kepala. So Isnin tu aku dtg opis, tapi .... aku lembik balik kat opis. Bygkan dgn muntah ntah berapa kali pas2 sejuk menggigil. Kebetulan ari tu aku ada appointment kat spital sbb nak tau result darah yg aku amek ari tu. G spital semua ok tp aku ada tiroid pulak .. aduh, mcm2 dugaan aku. Pasal tiroid tu lah buat kadar metabolisma aku rendah, sbb tu aku cepat letih, mudah jatuh sakit pas2 berat aku naik. Pas2 aku bgtau pasal aku dah demam dekat seminggu, doktor kuarkan surat rujuk ke emergency. Sib baiklah dia tak suh g klinik kesihatan .. g emergency aku terus masuk wad semi kritikal amek darah pas2 x sampai 5 minit nama aku kena panggil balik. MA tu terus ...
Tapi kan gengs bg aku org berbloq ni ada agenda dan matlamat mereka sendiri.... aku berbloq ni umpama aku terkentut gengs..sori gengs perumpamaan aku bunyinyer agak jengkel dan meloya kan....Bila aku nak kentut..aku kene lepaskan geng biarpon kdg2 boleh buat org loya. dan mual....apa daya aku...kentut ni hukum alam..tak boleh menidak kan nya kan....biar busuk aku kene lepaskan....sama ada gengs suka atau tidak ......aku tak boleh puas kan hati semua org...nak kentut aku bau Kristin Dior ke..Istiloder ker....mana aku boleh buat semua tu gengs....tp terkadang aku kene simpan kan kentut aku tu gengs...kemut kentut tu sampai terkentut semula kat dlm perut...menyumpah cacing2 aku kat dlm perut tu kat aku..nak2 pulak bila 3-4 hari tak membuang...tp apakan daya aku...aku kene kemut kentut tu utk tidak memalukan aku dan bukan saja utk aku utk gengs jugak...tak der la gengs terpaksa menahan napas. ...tersilap ari pitam pulak gengs atau silap haribulan gengs boleh sumpah seranah kat dlm hati...malaun mana ...
Dah cucuk, kami sekeluarga happy2 pegi Tesco, sbb aku teringin sangat nk makan laksa yg Speckybee masak.Beli barang2 untuk sambutan birthday Uyin kt skolah dia jugak. Pestu pegi makan ikan bakar kejap. Sampai rumah dlm pukul 9 mlm lebih kurang, aku mandikan nasuha, dan kemas2 dapur. Siang ikan untuk Speckybee buat laksa esok. Nasuha mcm biasa, mengekek2 gelak. Tak demam takde apa yg pelik langsung malam tu. Semua biasa2 saja. Dh siap2 kemas dapur, baru sedar rupanya dh pukul 12 mlm. Sakit2 badan aku, letih sgt hari tu. Pegang kepala nasuha, ada panas skit. Check tempreture, 36.8c. Nak demam anak aku ni. Ambil kain basah, lap2 kepala dia. Menyusukan dia. Untuk pengetahuan semua, aku dh lebih kepada natural healing kalau anak aku demam, batuk atau selsema. Masa Nasuha umo 5bulan, dia ada demam skit, bwk pegi jumpa doc. Masa tu suhu 38c. Doc ckp nk masukkan ubat bontot. Aku ckp, ok ke? tak de side effect ke? Doc jawab,oo no... ubat bontot lagi selamat dari Paracetamol. Aku mcm...erk? So, maksudnya ...
Dah cucuk, kami sekeluarga happy2 pegi Tesco, sbb aku teringin sangat nk makan laksa yg Speckybee masak.Beli barang2 untuk sambutan birthday Uyin kt skolah dia jugak. Pestu pegi makan ikan bakar kejap. Sampai rumah dlm pukul 9 mlm lebih kurang, aku mandikan nasuha, dan kemas2 dapur. Siang ikan untuk Speckybee buat laksa esok. Nasuha mcm biasa, mengekek2 gelak. Tak demam takde apa yg pelik langsung malam tu. Semua biasa2 saja. Dh siap2 kemas dapur, baru sedar rupanya dh pukul 12 mlm. Sakit2 badan aku, letih sgt hari tu. Pegang kepala nasuha, ada panas skit. Check tempreture, 36.8c. Nak demam anak aku ni. Ambil kain basah, lap2 kepala dia. Menyusukan dia. Untuk pengetahuan semua, aku dh lebih kepada natural healing kalau anak aku demam, batuk atau selsema. Masa Nasuha umo 5bulan, dia ada demam skit, bwk pegi jumpa doc. Masa tu suhu 38c. Doc ckp nk masukkan ubat bontot. Aku ckp, ok ke? tak de side effect ke? Doc jawab,oo no... ubat bontot lagi selamat dari Paracetamol. Aku mcm...erk? So, maksudnya ...
Ya, aku tak kisah berkenalan dan berkawan dengan mereka walaupun aku tahu mereka susah. Ketiadaan wang untuk berbelanja itu perkara biasa bagi mereka. Sebab itulah aku kata, bila berkenalan dengan mereka aku mengenal erti pengorbanan. Masa yang ada aku luangkan dengan mereka. Wang yang ada aku belanjakan untuk kesenangan mereka. Mereka senang, aku bahagia. Mereka murung aku merana. Bunyi macam menggelikan tapi itulah hakikat sebenarnya ...
dan secara tiba-tiba lagi, aku terpandang akan sesuatu benda. ianya kelihatan seperti mata dan warnanya juga kelihatan merah. secara tidak langsung aku bertakikardia dan peluh menghujani badan aku berterusan tanpa henti-henti ( boleh banjir kalau 3 hari hujan tanpa henti ). badan aku basah berjenruk. dan aku mengalami kegigilan serta kekancingan gigi dek takutnya terpandang akan benda itu. cerebral cortex aku suruh aku cabut lari, tapi basal ganglia pulak suruh aku relax dulu. thalamus apa lagi, cuba menakut-nakutkan aku. akhirnya aku berpegang pada kata-kata cerebellum yang menyuruh aku bertindak sebagai detektif conan edogawa. pons dan midbrain berusaha mengembalikan kekuatan aku, ditambah pula kata-kata motivasi dari medulla oblongata menguatkan lagi daya tahan aku. dan aku telah bertekad. bertekad untuk meneruskan tekad aku itu. tambah melengahkan masa, aku bangun dari katil dan terus ke suis utama bilik. aku meraba-raba sesuatu dan aku telah menjumpainya ...
Horror sangat muka aku masa tu, aku serius bertambah stress. Daripada nak okey jadi makin teruk. Aku pakai produk-produk amway tapi nampaknya tak jalan jugak. Aku tak menangis tapi aku stress. Aku dah muka fikir yang tak akan ada lelaki nak terima aku dengan muka aku macam tu. Aku taknak keluar rumah, tak nak jumpa kawan-kawan. Ada sekali tu aku bawak mak aku pergi KL sebab ade wedding invitation dari sedara-mara. Dengan muka yang menggerutu tu, aku follow jugak. Then, ada seorang makcik, dia salah seorang sedara aku tapi aku tak berapa kenal. Dia puji aku cantik, muka macam mix arab katanya. Aku senyum dengar makcik tu cakap tapi dalam hati aku macam nak meraung! Tapi dari muka makcik tu, aku nampak dia puji ikhlas bukan sebab perli. Makcik, makcik tak tengok lagi muka saya sebelum semua ini terjadi makcik. Dulu, muka saya tak macam ni. Tapi pepatah dulu-dulu orag tak pakai dah. Orang akan judge current state kita ...
dari sini aku belajar keras, keras untuk menggali ilmu. dari sini aku belajar kuat, kuat untuk mengetahui betapa sedikitnya ilmu yang kumiliki, sangat sedikit. dari sini aku belajar memaksa, memaksa tuhan agar ilmu itu cepat sampai padaku. dari sini aku belajar sabar, sabar menanti ilmu kan menyapaku. dari sini aku belajar jatuh, jatuh dari mengalahkan ke-egoan ku. dari sini aku belajar kekeluargaan yang sangat-sangat berarti. dari sini aku belajar sebuah komunitas. dari sini aku belajar berkomunikasi yang baik. dari sini aku belajar senang. dari sini aku belajar jaman jahiliyah. dari sini aku belajar mengenal orang-orang yang sangat asing bagiku. dari sini aku menyemangati orang-orang yang memang butuh untuk di support. dari sini aku belajar bahwa waktu itu sangaaat penting. dari sini aku belajar pentingnya komitmen, pentingnya disiplin. dari sini aku belajar kesedihan. dari sini juga aku belajar lebih dekat dengan sang khalik. dari sini aku belajar mengembangkan bakat. dari sini aku mengenal ...
Sedang memberi duit raya kepada kanak-kanak yang datang kerumah aku, aku terfikir maksud aidilfitri. Aku dengan confident memberi jawapan dalam hati yang aidilfitri bermaksud kejayaan selepas berjuang menahan nafsu dibulan Ramadhan. Aku stick with that answer till yesterday aku dengar Dr. Fadzillah Kamsah di radio Era. Aku yang memang failed bahasa Arab kagum bila Dr. Fadzillah beritahu aku aidilfitri bermaksud kembali ke asal. Aidil bermaksud kembali atau berpusing dan Fitri adalah root word for fitrah atau asal. Bukan pula bermaksud kembali keasal seperti sebelum bulan puasa, mungkin rutin harian kita sememangnya kembali keasal. Bererti bangun subuh tidak lagi pukul 5 pagi, lunch hour bukan hanya untuk tidor dan maghrib hanyalah loceng untuk kita berhenti bermain atau sudah tiba masanya untuk pulang kerumah. Aidilfitri sebenarnya bermaksud kita kembali seperti baru dilahirkan kedunia. Seperti seawal-awal kejadian kita seperi asalnya kita tiba didunia ini. Suci, putih bersih dek kerana proses ...
Ya Allah , bila aku bace akak aku punye text tuu memang aku meraungg menangiss ! Sumpah sedihh ! Mungkin mak dah terlampau rindu aku :( So habes sume akak akak n abang aku tahu then naty abang aku suruh aku balik . nak call kredit pulak takdeee , hmm . So baru malam tadi aku pinjam fon akak aku the call mak aku tengah tengah malam pukul 12p.m ! Hm aku bukan taknak call kadang , cause aku takot takdan cakap lg dahh tetibe aku meraung -- macam malam tadi pulakk aku yang beri ria nangis . Mak aku diam jee macam tesentak . Maybe mak aku taknak tunjuk :) Okay naty ct balik k mak :) rinduuu makkkkk . okbaii SALAM ...
satu malaya kenal mereka. dari yang kecik sampaila besar. semua terhibur... suasana kampung, permainan tradisional, penerapan akhlak mulia dan berteraskan hubungan satu malaysia. namun, aku tersentuh kerana mereka membesar tanpa ibubapa. tak merasa bagaimana mengucup tangan memohon kemaafan di pagi raya... perlahan2 mereka akan terasa kekurangan tersebut apabila satu waktu nanti bila di sekolah, ada time buat karangan bertemakan keluarga saya pasti akan ada ruang kosong di situ.. Sebab itu, berdasarkan pengalaman.... aku jarang menggunakan tajuk2 yang spesifik menjurus kepada keluarga. Biasanya aku akan ubah cikit.. daripada ayah/ibu aku tukarkan kepada insan yang disayangi....ini akan memudahkan budak2 yang takde lagi ibubapa. camne dema nak ceritakan pengalaman bersama ibubapa yang mmg dah takde.... Kadang2 pengesahan satu2 borang perlukan tandatangan ibubapa dan tak ditulis penjaga maka ianya memeningkan...aku tau sebab aku pernah mengalaminya dolo.... Kadang2 aku terpaksa cerita panjang ...
sbb aku mcm takut kalu nnt aku xikut ckp diorg, diorg akn ckp belakang2 aku pastu sume org xnk kawan ngn aku..aku takut nnt kalu xde kawan pegi mane2 sume sorg2 pastu nnt org akn tgk eh, nape bdk ni jln sorg2 sian die xde kawan, msti perangai dia xelok sbb tu org xnk kwn ngn dia..lol..sadis gler pnyakit physcology aku nih..tp bila umur dh nk masuk 21tahun ni tibe2 aku terfikir sampai bila aku nk jd cmni..hidup bagaikan hamba semua org..aku pn ade hak utk hidup aku sendiri.. di peringkat umur 21tahun ni aku dh kena bfikiran matang..org xbole nk control hidup aku, aku sndiri yg kena control..org2 disekeliling aku ni akn jd guider je.. aku kena kuat, bukan semua benda ko kne ckp YES, ade benda yg ko kena ckp NO..sampai bila nk kene jd hamba untuk semua org??think suzy think..ko dh besar, istilah xde org nk kawan ngn ko ni dh lapok..bialah org xnk kawan ngn ko sbb ko xikut ckp diorg janji ko xkacau pn hidup diorg..fuhh, emo giler aku.. ...
biasenye org nak ajak aku pegi makan pon susah. bukan sebab saving sangat. aku suke je makan2 cume aku malas nak keluar rumah. aku suke makanan kat rumah. sebab tu masa aku sekolah dulu aku target 1st sekali ciri2 yg wajib ade pada bini aku adelah dia mesti reti memasak. keh2. so ceritenye kalo takde orang masak kat rumah, instead of ikut natang alah Daud & Wawan gi makan luar, aku akan call kedai makan Shef bawah rumah aku suruh antarkan makanan ke rumah aku. kekerapan melampau sampai kalo aku call restoran Shef tu, samada Syed yg jawab atau Ammu Naser jawab fon, derang cume akan tanye nak pizza ke crib hari ni, muhammad?. pehtu terus letak fon. derang dah tau aku mesti nak samada pizza ayam doh nipis cheese lebih dan taknak zaitun ataupon aku nak crib ayam mozarella tanpa capsicum. alamat aku derang dah hafal. yg peliknye, aku tak penah muak walaupon ngadap hampir hari2 sejak dok Sayeda ni ...
Tapi, aku seorang yang rajin study jugak lah..Sejak dari sekolah rendah aku asik mengadap buku je. Tapi, bila dah masuk boarding school aku jadi makin malas. Sebab ape? Kat boarding school, pembelajarannya sangat cepat (memang jauh beza dgn skolah biasa). So, aku tak dapat catch-up. Then, jadi x minat nak blaja sebab dah ketinggalan. Time monthly test memang aku slalu corot. Tapi, aku jenis tak putus asa. Aku suka compete. Aku akan observe setiap kawan aku -mencari kelebihan dorang & kelemahan aku. Memang benda ni will take times. 1 more thing, aku train diri aku untuk sentiasa mengambil iktibar dari setiap kegagalan yang aku hadapi. Gagal sekali tak bermakna gagal selamanya. Kalau korang pernah baca entri2 aku sebelum ni..mesti korang perasan, hidup aku penuh dengan slogan ...
entry kali neh mmg agak sedih..bcoz i just lost my bestie..dya kwn yg sgt super duper hebat n aku xpnah nyesal kwn ngn dya... but lately..kami gadoh..can u imagine dah 7 taun kami kawan..aku x pnh niat buruk dgn dya...sntiasa tolong dya..tp suatu hari dya antr msg AKU XKAN MNX TOLONG ANG LG...sbb dya kata aku pnyebab dya n pkwe dya brgduh sampai sebot hang aku..apa perasaan hampa law hmpa ckp bek2 tiba 2 owg tdoh mcm tu..sakit kan..sbb jntn ja dya mmpu kuarkan prkataan mcm tu..yess,,,shes already mnx maaf...ayat dya bila aku tow tntg msg yg ang antq kat tutttttt...bwu aku mnx maap..so means that ang xpcaya la aku neh bniat nak tolong ang..tp anggap aku brukkn ang depan marka ang..pless la weh...aku pown ada perasaan..tarak la busuk sgt hati aku neh..tp xkan tep2 kli maw mnx maaf..maaf is just not good enuf..aku pown trlanjur ptoskan hbngn kami..then regret take a place on me..aku pown cuba bebek dgn syrt aku xmo dah msok cmpur urusan pribadi dya..out of sudden dya antq msg yg dya pown mls ...
aku bukan nak control makan aku,, tapi serious,, nafsu makan da tak macam dulu.. yela.. law fikir fikir,, takot gak la kan.. kenapa la tiba tiba takde selera makan.. kalau makan pon,, sikit je,, aku start sakit pedih ulu hati since bulan lepas.. lepas ibu n papa anta aku kat uthm.. masa tu aku baru lepas makan kot.. pas ibu 10 minit ibu balik dari uthm, aku terus rasa sakit kat ulu hati,, nak call ibu,, kesian lak,, takkan nak suruh diorang patah balik,, then,, masa tu alhamdulillah la kan,, amir datang pewira n buy me 3 gaviscon untuk melegakan sakit ni,, thak you so much amir!! so, aku agak kompius la kan kat sini,, nak kata aku tak makan, aku da makan,, tapi still sakit.. masa kat plkn dulu pon penah jadi mcm ni.. smpai pergi klinik under kem.. dapat ubat mende ntah.. jurulatih aku sampai ckp muke aku merah tahan sakit.. aku tataw la muke aku jadi merah mcm mana kan,, itam jek aku tgk muke aq T____ ...
Anak aku demam.. Aku susah hati.. Tak boleh nak berenggang sket, dia nangis.. Tido pun nak tido atas badan aku.. Malam pertama demam, badan sangat panas.. Aku selimutkan dia dengan kain lampin basah, pastu letak sapu tangan basah atas kepala.. Tido nak kene peluk.. Takpela, berkorban la sket untuk anak.. Aku pun badan tak sihat.. Dugaan betul.. Aku tak bape blh tido sangat, sket2 tengok anak aku.. Basahkan tuala.. Esoknya pegi klinik, dktr cuma bagi ubat demam.. Ubat tu cuma membantu sekejap je pastu demam semula, dktr cuma cakap kalau demam lagi dalam masa 3 hari datang semula.. Kali nie aku takkan bawa dia ke klinik tu lagi.. Aku nak bawa pegi hosp.. Aku takut kalau-kalau demam sebab lain.. Aku risau nie... Anak aku demam nak beralih bulan ke, nak tumbuh gigi lagi ke atau pun sebab dah nak lasak, nak pandai bertatih? Aku confuse niehhhh...Dahla nie 1st time dia betul2 demam macam nie.. Sebelum nie tak pernah demam.. Kesian betul kat dia.. Makan pun nak tak nak.. Aku bagi minum air masak ...
ok,cuti panjang minggu lepas aku bercuti ke langkawi lagi..kali ni aku g ngn kuarge mertua aku..cite psl tasik dyg bunting...mase aku g ngn hubby celebrate 2st anniversary thn lepas,aku xberkesempatan mandi kat situ..cuma rendam kaki n basuh muka jer....tapi kali ni aku dpt berendam dlm tasik tu...mak pak mertua aku byk kali igtkan aku suh minum air tasik tu..yelah kuasa tuhan kita tak tau kan...sambil meyelam aku minum air...byk kali gak lar..aku pun suh hubby minum gak...mak kate bila dah minum tu kita doa byk2 n tawakal jer..tu semua keje dia....kita hanya berusaha....rase cam kejap jer dpt berendam dlm tasik tu...sebelum aku blk sempat amik air tasik tu isi dlm botol mineral...terkejut gak bila aku dah amik,aku tgk air dlm botol tu xkotor langsung...malah putih jernih...mcm air mineral yg baru kita beli...aku simpan air tu..smpai bw balik kl tu...hehe....rase air tu mcm payau skit..alar,mcm rase air zamzam tu skit ...
Ha ok. Sambung blk cite , pada hari raya kedua mcm biasela aku bangun pagi. And mcm biase jugak mama yg jerit panggil suh bgn. haha Aku tlupe plak aku tdo kt kmpg. Almaklumla pg2 tu sedap je tdo dgn sejuknye and slimut tebalnye. Aku plak main tarik2 slimut dgn cazen aku , Aween. Aku tarik die tarik aku tarik dia tarik. Haha hamboi kaw kemain! haha. Bangun2 je aku da tbau nasi goreng and cekodok ikan bilis. Ha dgn xbasuh muke & xgosok giginye aku terus naik ats pangkin kt lua umah makcik aku and terus senduk nasi. Haha xsenonoh punye ank dare ! Dgn baju tdo slamber je mkn. haha terukkan? hehe tapi aku da biase. Macam tu la aku kalau balik kmpg. Mmg layan gile mkn kt ats pangkin kt lua dgn environment kampung yg tenang. Haih bertambah nasi. haha. Tak cukup dgn nasi aku bantai cekodok cecah dgn sambal sardin plak. Pergh ! ditambah pulak dgn air teh o panas. Double Pergh !!!!!!!! hahaha layang ! Sambil mkn mcm biasela berborak2. Blh plak mlm tu sdare aku dga ade pmpuan menangis tgh2 mlm kt lua. Ha ...
Sebab tu bila aku nak cari rumah sewa, aku cari yang ada tulis MYOB, aku tak pandang pada friendly roommate. Bukan sombong, tapi kau bayangkan. Kalau dah nama pun friendly, beli beras mesti nak sama2. Karang, beras yang aku makan lebih sebutir, atau sawi aku makan lebih sehelai, aku takut kau kata aku mengelat. Jadi kau beli beras wangi kau, aku beli beras budget faiza aku. Tak pernah cemburu aku lihat kau makan. Tak pernah peduli andai kau kata aku kedana. Tapi, kalau kau nak mintakkan aku beli dinner kau kat mamak, on the way balik, aku on je. Janji bayar balik. Sebab gaji aku bukan nak penuhkan tembolok kau, bukan nak kenyangkan perut kau, bukan nak bagi kau melepas hari2 ...
hubby aku dah banyak kali suh aku ambik lesen..tapi aku mengados lebih..malas la..takut la..pendek kate berharap sgt..bgantung sangat kt hubby aku..tak bagus kan perangai cenggini..tibalah satu hari hubby aku balik dgn muke agak muram..tapi aku seperti dah dpt agak....mesti kursus lagik!!ye..ke bangkok!!malam tu aku menangis2 minta hubby jgn pegik..sian kat aku n ukail..mau tak mau akhirnya hubby aku beralah lagi utk kali yg keberapa pun aku tak pasti..dan malam tu jugak hubby aku pujuk aku utk kali yg keberapa pun aku tak pasti gak utk ambik lesen..akhirnye demi sayangkan hubby yg banyak bkorban aku beralah gak ...
Masuk bulan Februari 2011,pada 3 hb (Tahun Baru Cina) aku pi la ambil darah di klinik lakiku untuk ujian hormon hari ke 21....Lepas tu, aku menses lagi (ye ye ye) pada 17 hb,tapi kali nie lamanya sampai 13 hari dan betul2 mcm org tumpah darah...sehari aku kena tukar 3 pad yang bertaraf NIGHTMAXI...aku jadi takut la plak,tp my mom cakap mungkin hormon mau kembali stabil jadi dia keluar dgn byknya...aku redha jak..tapi sebelum tu,masa hari ke 2 period,aku telah pun selamat mengambil darah utk ujian hormon....dalam masa yg sama aku mula demam dan batuk selsema...23 Mac barulah period aku habis dan aku rasa bersyukur sgt...tp mula jak period aku abis,aku mula susah tidur malam....bkn sebab byk nak difikir tp badanku nda selesa...mcm ada yg nda kena di dalam badan...tiap mlm klu aku masuk tidur pkl 11,pkl 3 pagi baru aku dpt tidur selepas dgn aktifnya berpusing ke kiri dan kekanan...lakiku relaks jak tidur...tiap kali bagn pagi mesti badan aku panas mcm org demam ...
semlm opis aku kene masuk pencuri...kebetulan plaks minggu nie ada kursus utk kontraktor di dewan seminar tingkat bawah...jd seperti biasa aku akan dtg awal utk menyediakan dewan seminar..sejak2 mengandung nie husband la yg membantu membuka pintu dewan..seawal jam 8.15pg aku dh smpai kt opis..bila je nak buka pintu aku dh perasan yg tombol tuh mcm dh kene kopak..bila je aku tolak pintu nampak la grill pun dh terbuka luas..husband pun suruh la aku tunggu kt bwh sementara dia pie tgk keadaan di tingkat 1..bila sah opis dh kene pecah terus aku call Kak Amy..time tuh aku dh cemas sbb bila aku masuk nampak opis berselerak..pekara pertama yg aku perasaan semua laptop dh abis kene kebas...aku pun terus call bos2 utk maklumkan yg opis dh kene pecah...lepas call bos,call plaks IPD Seremban 2...bila semua opismate aku sampai,masing2 dh kenalpasti apa brg2 yg hilang, aku, Kak Zima & Kak Siti pun pergi la buat report kt IPD Seremban 2..mmg penat aku semlm..turun naik tangga..berjalan asal nak cepat je smpai ...
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smalam tepat 9 pagi aku sampai kat hspital n trus g jabatan dermatology...nama ku dpanggil...die bg satu cebisan kertas yg ttulis nama aku dah perkataan BIOPSY !! seriau aku bse coretan tersebut..nurse tu pesan...nnt naek atas tingkat 2, buat biopsy..sepangjang perjalanan tuh aku tersengih aje mcm kerang busuk..mak sampai tegur aku..nape lah sewel bebenor anak die ni..aku kte ler..mak akak sengih bkan sbb nurse laki tu hensem mak..tp akak sengih sbb takot ya amat...bangun duduk bangun duduk aku..ta reti duduk diam...mak yg mse sahur td makan ubat batuk mula tesengguk..ngantuk..kadang2 kami tegelak sbb mak cerita pasal kopok lekornye yg meletop letup mcm roket...smpai ke syiling landing nyer..tringat aku kat belog kak ynaaohynaa tentang keropok lekor die yg meletop mcm cite aku..tp yg tu tak nak aku cite sbb aku ta de mse tuh...kat kolej melaka lg...tiba2 aku rse tangki aku nak pecah...alamak over tank lah ...
Khamis lepas 8/4/2010 aku demam, bukan suam2 kukunyer panas, mmg panas bangat. kalau budak kecik dah kena sawan tarik dah...w/pun demam, pagi tu aku tetap gi office, ingat kan tx teruk sgt,tp bila sampai kat opis, lagi aku tx boleh tahan, rasa cam nak pitam pun ada. bila gi clinic check, doktor bg mc. high blood aku pun cam tinggi jer - 140/98(tinggi kan!)kepala pun jadi tiong...walaupun demam ngan kepala yg tiong2 tu, aku gagahkan diri aku ni balik, balik umah aku naik bas. naik jer bas, aku terus zzz sampai destinasi terakhir.lepas tu kena cari teksi lak nk balik ke umah... sib baiklah aku demam, sbbnyer teksi yg aku naik tu beria tekan meter masa nk gerak, even kat pintu kereta siap dah tampal sticker, TEKSI INI MENGGUNAKAN METER, TIADA TAWAR MENAWAR..BLA..BLA..BLA..sekali masa nak bayar, dia kata rm 10/- dlm masa yg sama aku sempat gak jeling kat meter tu cume rm 5.++ jer...aku malas nk bertekak..byr jerlah walaupun hati aku rasa sakit sbb kena tipu ...
Hari esoknya aku melihat ayah aku tidak larat untuk bangun dari tilamnya.Pening kepala,badan Seram sejuk,kaki kebas dan sakit pinggang sehinggakan tidak boleh bergerak.Aku membawa ayah aku ke klinik di pekan.Doktor memberi ubat demam beserta dengan injection.Doktor yang handsome mengatakan ia demam biasa.Pada 2 hari selepas itu demam masih belum surut.Aku kembali membawa ayah aku ke klinik untuk Injection kali kedua.Doktor suspek demam cikunya..Sebab ia mengatakan ramai orang kampung aku mengadu sakit yang sama..Ah sudah..aku katakan..Penyakit apakah ini..hari demi hari,sudah lebih seminggu aku lihat ayah aku terlantar..kenapa tidak baik-baik demamni?..Doktor bagi salah ubat ker..hatiku berdetik.. Lastly,Ayah aku diberikan injection kali ketiga dan diikuti makan sup ketam dan meminum 100plus..alhamdulilah..nampak ada perubahan.. Sekarangni telah 2 minggu berlalu tetapi ayah aku masih mengadu sakit pada urat saraf pinggang..Tetapi ayah aku kuatkan semangat..dia melawan balik demam chikunya ...
ko baru jaga baby 2 orang..si khalif tu umur dia satu tahun..takkan sebab ko tensen dgn anak org, aku plak yg kena jadik mangsa..ko ingat tpt keja aku ni depan rumah ko ke..suka2 hati suh aku amek ikut jadual ko..skang nih, sapa yang upah sapa nih???? kalau tak larat nk jaga 2-3 org budak, takyah lah amek..patut ko kena lebih bersedia atas semua kemungkinan..bukan taknak consider, tp kalau dh byk kali ko suh aku amek awal..baik aku hantar p taska je..kdg2, husband aku terpaksa balik awal sebab nk amek adam.. berapa kali ko ada hal emergency dalam sebulan..boleh kata sebulan mesti ada emergency..suh amek awal..pastu suka2 hati ko je nk mintak cuti..aku bayar o..okay!!! atas dasar kemanusiaan, aku bersabar, aku ikut je rentak ko..tapi skang ni aku dah tak sabar..pedulik apa aku kalau laki ko tu pengerusi jkkk kawasan rumah aku..ada aku kesah???????????????????????!!!!!!!!!!!!!!!!!!!!!!!!!!!! ...
Our laboratory uses genomics and molecular biology techniques to carry out research in Human Genetics. Overall, there is a strong -long standing- interest in Complement genetics. Since 1983, our laboratory has been involved in the study of the genetics and function of the proteins that regulate the complement system. We described in 1986 the human Regulators of Complement Activation (RCA) gene cluster in chromosome 1q32 and subsequently provided most of our current understanding of the genomic organization of this region of the human genome. Recent work in this area has focussed on the study of the role of RCA proteins in susceptibility to renal and ocular disorders.. Additional contributions of our laboratory to the field of Human Genetics include: The cloning of the gene responsible for alkaptonuria (AKU) and the complete characterization of the molecular, structural and epidemiological basis of this disease; The cloning of the human homeobox gene SIX6 as a gene responsible for anophtalmia ...
Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein. It is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5); if a person inherits abnormal copies from each parent (it is a recessive condition) the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidized form alkapton are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves as well as precipitating as kidney stones and stones in other organs. Symptoms usually develop in people over thirty years old, although the dark discoloration of the urine is present from birth. Apart from treatment of the complications (such as pain relief and joint replacement for the cartilage damage), the drug nitisinone has been found ...
Synonyms: AKU, alcaptonuria; homogentisic acid oxidase deficiency; ochronosis This is an autosomal recessive condition of homogentisic acid oxidase deficiency,...
Rare, autosomal recessively inherited enzyme defect with missing or reduced activity of homogentisic acid oxidase and consequently deposition of homogentisic acid in c...
Homogentisic acid definition, an intermediate compound in the metabolism of tyrosine and of phenylalanine, found in excess in the blood and urine of persons affected with alkaptonuria. See more.
Since 2010, the section has been a training ground for world experts in the clinical aspects of cystinosis, alkaptonuria, Chediak-Higashi disease, Hermansky-Pudlak syndrome (HPS), gray platelet syndrome, Hutchinson-Gilford Progeria syndrome, GNE myopathy, albinism, autosomal recessive polycystic kidney disease, Joubert disease and other ciliopathies, and Erdheim-Chester disease. In aggregate, more than 500 patients with these very rare disorders have been evaluated in just the past five years to accrue cross-sectional and longitudinal data on the natural histories of these diseases for use in future interventional studies. Section investigators and collaborators have already obtained Food and Drug Administration approval for oral and topical cysteamine for nephropathic cystinosis. They have completed clinical trials of the TGF-beta inhibitor; pirfenidone, for the pulmonary fibrosis of HPS; and nitisinone, for the ochronosis of alkaptonuria. Nitisinone blocks the production of homogentisic acid, ...
The defects in tyrosine metabolism lead to albinism which is a group of diseases as result of deficiency in melanin. These result in either partial or full absence of pigments from the skin, eye, and hair. There may be vision defects and photophobia. This disease occurs due to deficiency of tyrosinase enzyme.. Alkaptonuria is another disease due to deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid. Patient may have homogentic aciduria, arthritis of large joints, and black pigmentation of cartilage and collagenous tissues.. Tyrosine interacts with monoamine oxidase inhibitors so patient should avoid foods containing tyrosine.. Thus, tyrosine has many beneficial effects. It supplementation is also available for the persons deficient of this amino acid. It is a useful amino acid during periods of cold, stress of any kind either emotional or physical and fatigues.. ...
Alkaptonuria (AKU) [MIM:203500]: An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. {ECO:0000269,PubMed:10205262, ECO:0000269,PubMed:10340975, ECO:0000269,PubMed:10482952, ECO:0000269,PubMed:10594001, ECO:0000269,PubMed:19862842, ECO:0000269,PubMed:21437689, ECO:0000269,PubMed:23353776, ECO:0000269,PubMed:23430897, ECO:0000269,PubMed:25681086, ECO:0000269,PubMed:8782815, ECO:0000269,PubMed:9154114, ECO:0000269,PubMed:9529363, ECO:0000269,PubMed:9630082}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). The authors report the cases of three patients ...
Azam tahun baru?? Aku tak penah berazam dan ada azam... should i?? Tapi aku ada impian. Impian yang aku tak tahu dah berapa tahun aku idamkan dan pendamkan..... agak2 tahun nie berjaya ker aku nak realisasikan impian aku. Entahlah..... apa impian aku??? Macam-macam...tapi yang paling-paling utama.....aku nak financial freedom!!! Bila la boleh merasa ye tak?? Umur dah nak masuk 32..... rutin hidup hari2...dok tunggu gaji masuk....masuk hari nie esok langsai..... camno??? Kalau dapat duit terpijak kan best.....ekekekeke mimpi laaaaa..... so bila aku berimpian nak financial freedom nie....mula la aku mengidamkan sebuah business. Last year memang jatuh merudum mood aku nak berbisnes...mungkin tahun 2007 macam2 peristiwa pahit manis yang berlaku dalam hidup aku buatkan aku kureng berazam nak majukan business aku sendiri. ...
For AKU patients, the most relevant network is the one focusing on Rare connective tissue and musculoskeletal diseases. The National AKU Centre (NAC) in Liverpool has applied to become part of the clinical network, and the AKU Society as part of the patient group network.. The idea behind networks is to help identify and correctly treat patients with rare diseases in Europe. For example, if the NAC was part of an ERN, then patients diagnosed with AKU anywhere in Europe would be referred to the NAC for advice. The NAC could then help local doctors provide the best care for their patients.. Eurordis have more information about ERNs at http://www.eurordis.org/content/getting-ready-erns and ePAGs at http://www.eurordis.org/content/epags. Rare Diseases International. Rare Diseases International is a new initiative led by Eurordis and supported by several other international rare disease groups. Their goal is to unite rare disease patients worldwide, and demonstrate that rare diseases is a global ...
POZOR dalam erti kata laen bermaksud berhati-hati atau perhatian...Tujuan aku menulis untaian kata-kata di sisi blog aku ni adalah untuk menjelaskan sebab kewujudan blog ini berserta amaran keras untuk semua pengemar blog yang sudi membaca isi kandungan blog aku ini.. Sememangnya sejak azali tidak aku berniat untuk terlalu serius dalam menulis disini, tidak pernah juga aku menjanjikan hasil penulisan yang bermanfaat buat kamu-kamu, mahupun nukilan yang mampu membuatkan kamu-kamu gembira/terhibur... Aku hanya menulis perkara yang aku suka kerana aku tidak pernah peduli dan ambil tahu apa yang kamu-kamu suka.. mungkin berlaku banyak khilaf dan kelemahan dari segi isi kandungan blog ini, semuanya dek kekurangan diri ini.. Blogging atau menulis blog ini hanyalah satu wadah untuk aku melampiaskan isi hatiku, tidak juga 100% perasaanku dicurah disini,namun cukuplah secebis-dua..cukup sekadar aku puas dan lega... Jadi aku tidak memaksa kalian-kalian untuk membaca segala yang aku post disini kerana ...
POZOR dalam erti kata laen bermaksud berhati-hati atau perhatian...Tujuan aku menulis untaian kata-kata di sisi blog aku ni adalah untuk menjelaskan sebab kewujudan blog ini berserta amaran keras untuk semua pengemar blog yang sudi membaca isi kandungan blog aku ini.. Sememangnya sejak azali tidak aku berniat untuk terlalu serius dalam menulis disini, tidak pernah juga aku menjanjikan hasil penulisan yang bermanfaat buat kamu-kamu, mahupun nukilan yang mampu membuatkan kamu-kamu gembira/terhibur... Aku hanya menulis perkara yang aku suka kerana aku tidak pernah peduli dan ambil tahu apa yang kamu-kamu suka.. mungkin berlaku banyak khilaf dan kelemahan dari segi isi kandungan blog ini, semuanya dek kekurangan diri ini.. Blogging atau menulis blog ini hanyalah satu wadah untuk aku melampiaskan isi hatiku, tidak juga 100% perasaanku dicurah disini,namun cukuplah secebis-dua..cukup sekadar aku puas dan lega... Jadi aku tidak memaksa kalian-kalian untuk membaca segala yang aku post disini kerana ...
Ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria, a metabolic disorder. Additionally, ochronosis can occasionally occur from exposure to various substances such as phenol, trinitrophenol, resorcinol, mercury, picric acid, benzene, hydroquinone, and antimal...
Get an overview of the disorders of carbohydrate metabolism and amino acid metabolism and learn more about glycogen storage disease, GALT deficiency, phenylketonuria, homocystinuria, and alkaptonuria. Glycogen storage diseases ✓, galactosemia ✓, hereditary fructose intolerance ✓. Read more!
Urine is a liquid by- product of metabolism in humans and in many animals. This medicine may interact with other drugs or health problems. Find patient medical information for Urin DS Oral on WebMD including its uses, side effects and safety, interactions, pictures, warnings and user ratings. Urină din osteoartrități. Urobilinogen is formed from the breakdown of bilirubin in the intestines and passed to the liver and. De/ shop/ adlerssonpictures grundlos Spenden paypal. Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein. Tell your doctor and pharmacist about all of your. What Are the Normal Levels of Urobilinogen in Urine? Urine flows from the kidneys through the ureters to the urinary bladder. Urin D/ S Interactions Avoid taking an antacid or anti- diarrhea medicine within 1 hour before or after you take hyoscyamine, methenamine, methylene blue, phenyl salicylate, and sodium biphosphate. In ...
Ive had super dark urine almost dark brown since starting the Asacol. Theyve done all sorts of kidney tests and urine tests but of course I dont have the dark urine when they need to test it. It comes and goes I find I need to drink a ton of water. Has anyone else had the dark urine from it. One site I found said its from the dark coating and late break down of the pill. I just sort of feel nervous everytime I see the dark urine. Thanks a bunch, ...
Adelia dah xpakai sarung tangan dan stoking start hari ke55..now dia dah umur 63hari.Kira baru sangat lagi la aku xbagi dia pakai sarung tangan dgn stoking. Tapi waktu malam aku memang bagi adelia pakai stoking.sebab sejuk.tangan memang siang malam aku biarkan ja. Sebenarnya sampai bila nak pakaikan sarung tangan dan stoking nie??.. Aku ada sms doktor yang aku kenal.aku tanya pasal sampai bila nak bagi adelia pakai sarung tangan..dgn stoking. So dia advise aku..aku tulis based pada apa yang aku paham. Seeloknya,pakaikan sarung tangan sampai umur 1bulan sahaja.sebab masa umur 1bulan++ baby dia akan start sedar yang dia ada tangan..ada jari..ada kaki..dia akan cuba explore tangan dengan jari dia..sebab tu kita tengok baby start nak cuba hisap jari. Kalau kita pakaikan sarung tangan,baby akan terbatas.pergerakan jari dia terbatas.cuba tengok bila baby kita xpakaikan sarung tangan.. Jari dia melilau meratakan..hehe..macam adelia,dia nak isap ibu jari sampai jari lain masuk hi ...
its time to reveal. entah pape kan? HAHA dah orang pun tahu, baru nak reveal. yela, alhamdulillah, aku dah selamat, baru laa aku rase ade kekuatan nak cerita kat semua orang. its OVARIAN CYST. tapi dah takde pun. CYST nye dah di remove kan, dan aku tengah mengadap laptop ni haa depan parents aku,, for the first time. dekat meja makan. boleh kau buat? hehe. benda jadi terlalu cepat, aku buat checkup dalam masa dua minggu terus buat operation. aku sendiri susah nak terima benda yang TIBA-TIBA jadi ni. thats why aku cerita kat certain orang je. orang yang aku rapat. so its okayy kalo ade yang tak tahu pun. jangan rase bersalah, itu sume my bad. aku mintak maaf sebab tak inform ...
Ok, untuk entry yang pertama pasal Perth, aku cerita apa yang aku bawak je la. Sebab yang lain-lain memang aku clueless. Nasib baik la bukan suami yang kemaskan barang, aku bawak diri je. Lagi teruk! Haha. So, kami pergi end of May. Google cakap time ni baru je nak habis autumn, baru nak start musim sejuk. So. suhu paling rendah pun dalam 10 degree celcius saja. So, aku bawa pakaian biasa macam jeans, tshirt, stoking, telekung. Dress tak payah la, nanti masuk angin, sejukkkk!! Just bawak spare satu jacket. Tak perlu winter coat or trench coat pun kalau tak ada. Aku bawak satu winter coat yang tak berapa tebal pun. Just nice untuk weather masa tu. Coat yang aku baru beli online, murah je, tak sampai ratus-ratus pun, RM70 kot tak silap aku. Dah la comel juga. Kalau pandai cari, mesti jumpa punya. Apatah lagi, online shopper tegar macam aku, wajib jumpa. Si dia tegur, lawa coat? Mesti mahal ni. HAHA. Mahal lah sangat! Setakat nak bagai 2-3 hari, pastu tersadai dalam almari, tak perlu rasanya yang ...
procedure admit wad tu macam biasa la. disebabkan wad o&g memang selalu penuh, lambat aku dapat katil. dia suruh datang tengahari. lepas tu dia suruh balik dulu sebab katil takde. kul 5+ baru dia call suh datang hehehe. pastu bila aku kata aku lambat sikit sebab nak tunggu suami balik ambik, pastu saya jauh sikit nak sampai dia plak marah aku hahaha. dah tu nak buat cemana, laki aku tak cuti. kenala tunggu dia habis keja. lepas tu rumah kitorang dengan putrajaya dalam 40minit jugak kalau tak jem. ni waktu orang balik kerja, paham-paham jela kan. aku buat bodoh je, sampai-sampai terus pergi kaunter, dia suruh naik atas terus. doktor cucuk nak pasang branula, gagal. nak marah, kesian sebab memang urat aku halus. kena betul-betul cekap baru senang haha. doktor baru, aku izinkan atas sebab dia nak belajar. sakit pun sakitlah. dia cuba sekali je, pastu gagal dia tak buat dah sebab sebelum tu dia dah cucuk aku dua kali untuk amik darah gagal jugak hahaha. kali kedua cucuk, barulah dapat darah sikit. ...
Herba tumbuhan ini telah diperkenalkan oleh seorang sahabat kepada aku. Katanya ubat ini boleh melancarkan peredaran darah. So, aku tryla cari kat farmasi dilabuan ni..dan aku jumpala produk yg di bawah ni. Harganya RM50 dan ada 100 biji tablet. Di mana sehari 3 kali makan,1biji sekali ...
dan mase aku balik kg aritu sempat aku luangkan masa sekejap untuk melawat ena di rumahnya..dekat jer ngan rumah aku kt jelawat tu jer..huhuhu..setelah agak lame xjumpe ena, ni lah baru kami berjumpe kembali..dahlah masa dia kawin aritu aku x dapat pegi, jumpe2 lak dh dpt baby..hehe..mase aku pegi danish sedang tidur tapi sepanjang2 aku kat situ, danish langsung la xhiraukan org di sekeliling...asyik tidur memanjang..macam2 yg aku buat utk sedarkan danish tp dia tetap mcm tu gak...orang bergambar pun tido, orang gelak pun dia tido sampai aku nk balik pun dia tetap tido jugak...hmm nasib la ila xdpt tengok danish bukak mata..hehe ...
Prepare for AKU entry test online. Save time, energy and money. Online AKU preparation using modern teaching methodologies, video lectures, MCQs, practice exams, past papers.
Doctors give trusted, helpful answers on causes, diagnosis, symptoms, treatment, and more: Dr. Khorsandi on what are some causes of dark urine pain: Several causes of dark urine inlcude blood or blood clots, infections, inflammation of the urinary tract, trauma, kidney stones, and cancer. Dark urine should be evaluated to determine the presence of any of the findings for appropriate treatment.
The aim of the study was to determine the frequency and age-dependency of adrenal changes in dogs and cats, which were dissected between 2004 and 2006 at the Institute of Veterinary Pathology, LMU Munich. The adrenal glands of 101 dogs and 159 cats were dissected free from adjacent tissue, weighed, lamellated perpendicular to its longitudinal axis and were embedded in paraffin and plastic for histologic inspection. Ageing cats most frequently showed accessory cortical nodules in the capsule, cortex and medulla, pigment deposition and shock bodies. The appearance of accessory cortical nodules and pigment deposition were linked to the age of the cats and that of shock bodies was linked to infectious diseases. Inflammatory alterations were rare and neoplastic changes were not observed. In dogs, the most frequent alterations were accessory cortical nodules in the capsule, cortex and medulla and circulatory disturbances and there was a significant linkage of the appearance of cortical nodules
Pagi Khamis yang indah dan ceria. Sungguh mendamaikan udara pagi ni. Aku terjaga seawal jam 5 pagi dan takleh tido balik. Pak Nit Jr sedang lena diulit mimpi. Sure dia puashati dapat cakap dengan Adik Angah dia malam tadi dan dapat tengok abah perform live lagu fevret dia malam tadi (tapi bukan La Bodega punyer version, our bedrum version jek + de capo). Ibu lak dah start ketung ketang kat bilik sebelah menyiapkan apa2 yang patut untuk gi kerja satgi. Capai towel, pulas shower n bersiram. Pack n go to werk la geng! Aku teruskan rutin biasa terjah NKVE, heading to Bangsar dan swing balik thru Jln Sentul untuk ke opis aku. Sampai opis - wow! baru kol 7.41 pagi. Awal beb aku hari ni. Seb baik gak la belum ada roadblock lagik kat tol Jalan Duta tu. Kalo tak memang merah la punch kad aku pagi ni. As usual, masuk opis jek dan ada menda-menda yg ditinggalkan dalam tray. Maklumlah, hari ni turn boss aku gi Melaka jumpa bini muda dia kan..hahahahaaa - KK!! 8.30 pagi, Zam Tupai call aku dan as usual kalo ...
p,Fulamak...mmg gempak gila la features samsung sIII ni...as samsung user mmg aku terkesima bila tgk dis phone....trully smart n intelligence phone...wut i lioke about samsung is d features n d service after sales which is trully great!like mine the nenek version of samsung sIII...which is samsung sl only...da brpa kali wat hal...first2 software crash...pastu board wat hal...n latest aku punya screen wat hal....n pling bestnya bru ja dpt blik mcm newborn...tpi segala data aku xilang la....weee....sbb just tukaq screen ja...tpi.....kena la beli yg original warranty from samsung ya..bukan AP set ya...bygkan kunun nk seppp seratus dua...tpi kalau jdi mcm kes aku ni naya ja kena tukaq screen la board la...bukan nk kata brg samsung tu byk defect...aku rsa tak...ni punca nya aku la jgk...pkai glove penuh ngn chemical kt lab tu pun selamba ja sretttt touch screen...mau x lingkup saja la...nsib depa foc ja...muahahhaha....tpi kalau warranty sl aku ni da abeh n fon ni wat hal ker...mmg come to mama la ...
sampai masanya dia berdiri n aku dengar dia baca bismillah.dia try tarik gigi aku keluar patu aku jerit sakit docdia kata sikit baru dia tekan..huhu diapun kataooo u punya gg memang tengah sakit cket n akan countinue sakit selagi tak buang..dia minta aku tahan sikit..kalaulah dulu aku cabut sebelum sakit,mesti takkan rasa sakit masa ditarik.pastu doc bagi lagi 1 dos bius baekk nyer sampai dalam gusi...so aku tahan nafas.diapun mulakan mencuba tarik lagi.masa tarik aku baca doa nabi yunus..la ilahailla anta subahana inni kuntu minal zalimin n sebut Allahuakbar dalam hati..sekali lalu sakit bagai taufan!!dah selamat kuar gigi..rasanya taklah terlalu teruk..alhamdulillh.. ...
sampai masanya dia berdiri n aku dengar dia baca bismillah.dia try tarik gigi aku keluar patu aku jerit sakit docdia kata sikit baru dia tekan..huhu diapun kataooo u punya gg memang tengah sakit cket n akan countinue sakit selagi tak buang..dia minta aku tahan sikit..kalaulah dulu aku cabut sebelum sakit,mesti takkan rasa sakit masa ditarik.pastu doc bagi lagi 1 dos bius baekk nyer sampai dalam gusi...so aku tahan nafas.diapun mulakan mencuba tarik lagi.masa tarik aku baca doa nabi yunus..la ilahailla anta subahana inni kuntu minal zalimin n sebut Allahuakbar dalam hati..sekali lalu sakit bagai taufan!!dah selamat kuar gigi..rasanya taklah terlalu teruk..alhamdulillh.. ...
yeehaaa...sonot lagi..berfamily day..aku nk story pasl family day OUM..hoh..ape tuh? hehe..open uni ler..actually sabtu tu register day utk new sem aku..n aku ade class hr tu..tp dgn selamba kodok aku ponteng..inila student cemerlang..1st day dh ponteng..ekeke:D tp seb bek jgk aku ponteng..sbbnya aku xjadi amik subjek tuh...so xrugi la aku ponteng kan diri utk g family day tu kan..yeehaaaa:p ...
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Hari ini nak share satu ilmu baru. Ilmu dan tips untuk mendapatkan anak. Tapi, perlu diingatkan bahawa aku tak pernah cuba cara ni. sebab tu aku kate ilmu baru. aku dapat ni pon sebab follow blog Dr Hamid Arshad.. aku paste sini untuk rujukan masa depan aku, walaupon sekarang dah ada salman, sesetengah orang berpendapat kalau dah lekat, nanti senang dah nak pregnant. aku tetap masih mencari ilmu-ilmu dan tips-tips sebegini. Allah je yang tau rezeki aku nanti camne kan, senang ke susah nak dapat adik salman.. Boleh klik linknya di sini yerk.. Untuk rujukan rakan-rakan TTC yang masih berusaha. semoga termakbul hajat kawan-kawan semua ...
BOSCH 18V 2-Tool Combo Kit with 1/2 in. Errors will be corrected where discovered, and Lowes reserves the right to revoke any stated offer and to correct any errors, inaccuracies or omissions including after an order has been submitted. GBH18V-26DK24 + FREE GDE18V-26DB15 18V EC Brushless SDS-plus® Bulldog™ 1 In. BOSCH 5Tool kit 18V aku sada nářadí - aku combo sada nářadí 18 V - 5 druhů nářadí, 3x aku 4,0 Ah, montážní brašna. Current slide {CURRENT_SLIDE} of {TOTAL_SLIDES}- Best Selling in Cordless Drills. BOSCH 5Tool kit 18V aku sada nářadí - aku combo sada nářadí 18 V - 5 druhů nářadí, 3x aku 4,0 Ah, montážní brašna. This kit features the Freak - the GDX18V-1600 two-in-one bit/socket impact driver, with a chuck that has a 1/4 In. Compact Drill/Driver and 1/4 in. KMS 5 Star Power Tool Advantage Plan: We add one FREE extra year of … of impact energy for professional applications, Robust rotary hammer system - produces 0-4,550 no-load bpm and 0-1,800 no-load ...
Member cina aku yg paling rapat time skolah dulu. dia aku ngn Wan Sama. minat wrestling. dia paling suka Wwrestler nama Carlito, ngn tagline carlito pun dia suka. Thats Cool.Lim duduk sebelah aku dlm klas so ble bayangkan r kan cmna aku rasa bila dia dah meninggal. dia meninggal 2 bulan seblom SPM. xdak sakit pa2 kecuali kesukaran bernafas. day goes by as an ordinary day, dia xmai clas so kami suma just aspect yg dia saja2 ponteng skolah r. pastu petang ckit cikgu Faw datang kat clas kami gitau yg Lim dah xdak dah. bayangkan camna kami rasa. actually malam seblom dia meninggal tuh dia ada text ngn member aku yg sorang lagi, Dayat. diorang texts besa2 ja dulu, pastu Lim mintak tolong Dayat setel duit clas yg dia xbayaq di, RM1.tuptup, dia dah ninggal. time tu bulan posa. kami suma satu clas wat trip ke funeral dia.seriesly sedih dowh. kan chinese time dah mati akan gantung gambaq org yg mati kan, so the moment kami suma sampai kat funeral lim tu aku nangis gila2 babi punya bila tgk gmbaq LIm yg ...
Member cina aku yg paling rapat time skolah dulu. dia aku ngn Wan Sama. minat wrestling. dia paling suka Wwrestler nama Carlito, ngn tagline carlito pun dia suka. Thats Cool.Lim duduk sebelah aku dlm klas so ble bayangkan r kan cmna aku rasa bila dia dah meninggal. dia meninggal 2 bulan seblom SPM. xdak sakit pa2 kecuali kesukaran bernafas. day goes by as an ordinary day, dia xmai clas so kami suma just aspect yg dia saja2 ponteng skolah r. pastu petang ckit cikgu Faw datang kat clas kami gitau yg Lim dah xdak dah. bayangkan camna kami rasa. actually malam seblom dia meninggal tuh dia ada text ngn member aku yg sorang lagi, Dayat. diorang texts besa2 ja dulu, pastu Lim mintak tolong Dayat setel duit clas yg dia xbayaq di, RM1.tuptup, dia dah ninggal. time tu bulan posa. kami suma satu clas wat trip ke funeral dia.seriesly sedih dowh. kan chinese time dah mati akan gantung gambaq org yg mati kan, so the moment kami suma sampai kat funeral lim tu aku nangis gila2 babi punya bila tgk gmbaq LIm yg ...
http://mrmanager.blogspot.com. I felt so honoured because he actually dropped by my blog!! wheew...im just a new kid on the BLOG...that posts many craps (interesting CRAPS i guessed) and the famous mr manager and well known blogger actually dropped by my blog!! not just that, remember the previous post bout the Chicken Ala Carte tuu....Mr Vern actually blogged bout that...happy gile...(maybe some of u may think that im over-reacting....but ADE AKU KESAH?? aku mmg OVER The PAGAR pon...) THANX Mr. Vernon!!. Some people may not know whos Mr. Manager....(maybe sebab org tu tinggal dlm gua or just dumb about the entertainment industry) inilah Mr Manager..or the real name is Vernon Kedit-Jolly...i followed his blog for quite some time...and rasenye macam hes the only artiste manager yang mesra alam...his blog inspires me ;) rase macam nak sangat jumpe die..maybe one fine day kot...hermm.... ...
hari ini aku nak cerita pasal kawasaki.bukan jenama kawasaki tau tapi penyakit kawasaki.selalunya kanak-kanak bawah lima tahun.aku tahu pasal penyakit ni pun masa anak kakak sedara aku masuk hospital. first time aku dengar penyakit ni aku ingat motor kawasaki.haha..rupanya penyakit ...
Alhamdulillah esoknya aku dah boleh bgn n mandi sendri. Tp kene hati2 la sebab masih ada cam tiub lagi kat leher aku. Mende tu (macam bekas tertutup bentuk bulat) untuk biakan nanah or lendir tu keluar. Lepas operate smalam tu, Dr Sahrir ada datang explain pasal operation tu. Die kate masa tgh nak buang cyst tu, tetibe nanah keluar kat situ. Patotla aku sakit, sbab dah ada infection. Die kate die dah buang bersihkan dah area situ. So tak perlu risau, lepas ni dah tak sakit. Sehari lepas tu, nurse datang utk bukak luka. Seram sejuk sekali lg aku. Sibaik la dorang ni buat lembut je, so takde la aku sakit. Lepas bukak, dorang bersihkan luka n kate Kak, kami nak tarik sket benang ni, nak tutup lubang yg terbuka ni ye. Adoi ye ke..ha ok2 (dlm hati kecut) ...
The Face Shop- Chia Seed Cleansing Water. Dulu Sebelum kenal cleansing water, cleansing oil,micellar water dll, Aku hanya memakai milk cleanser viva yang botolnya berwarna hijau (tapi aku lupa variant apa) buat ngebersihin makeup dan kotoran diwajah.. namun semenjak di OA line @bunnyneedsmakeup ada admin twinklr aka ries,pita & anita (mereka bertiga bener-bener suka menyebar ratjun tentang pembersih wajah) akhirnya semenjak itu aku jadi suka belanja cleansing water juga hehe.. Kali ini aku membahas cleansing water dari the face shop -chia seed, karena dari semua cleansing water yang aku punya, hanya cleansing water TFS ini yang tersisa, yang lainnya sudah pada habis dipakai.. ...
Baru-baru ini aku membeli vitamin C yang dilengkapi dengan quercetin. Aku sama sekali tidak pernah mendengar soal quercetin sebelumnya. Menurut petugas apoteknya, katanya quercetin itu lagi dicari-cari, bisa nyembuhin macam-macam. Meski sekarang aku mahasiswa Hubungan Internasional, aku masih menyimpan passion yang besar untuk sains. Jadi, aku segera mengeluarkan teman terbaikku, Google, untuk mencari tahu lebih…
Macam gampang betul la! Tak boleh blah lagi. Aku mesti memisahkan bontot aku dari muka bangku plastik. Pagi ni aku tak terasa nak bercakap lebih daripada sepuluh ayat, memilih untuk menjadi pemerhati sunyi aksi-aksi tangan dan kepala yang sentiasa ligat bergerak seiring dengan jalan cerita tuan empunya jasad. Kisah yang sama, isu yang sama, masalah yang juga serupa. Tanpa ada sedikit pun titik idea yang bertunas. Semuanya cerita sama. Kisah gaji, korupsi, bebanan hidup dan sedikit gosip pagi ni adalah olahan isi percakapan pagi semalam. Perbualan pagi semalam tak lebih dan tak kurang sama macam pagi kelmarin. Sama. Tindakan aku tepat apabila terdengar ayat cedokan sama dari jam 7:43 pagi tadi ketika tangan kanan aku menguak daun pintu dan tangan kiri menatang piring berwarna biru muda yang mengampu cawan kecil berisi kopi tarik. Masih berbaki separuh. Hampir sejam, sedikit letih kerana menjadi ketulan batu angguk di tengah-tengah kumpulan manusia yang bercakap. Kawan-kawan, hari Isnin kita ...
Alkaptonuria:[31] Metabolic disorder which promotes the accumulation of homogentisic acid in the body and may cause brown ...
NDUFV1 Alkaptonuria; 203500; HGD Allan-Herndon-Dudley syndrome; 300523; SLC16A2 Alopecia universalis; 203655; HR Alopecia, ...
Alkaptonuria is a genetic disease that results in a deficiency of homogentisate 1,2-dioxygenase, which is responsible for ... "Natural history of alkaptonuria". The New England Journal of Medicine. 347 (26): 2111-21. doi:10.1056/NEJMoa021736. PMID ...
Alkaptonuria patients treated with nitisinone produce far less HGA than those not treated (95% less in the urine), because ... This causes the symptoms of Tyrosinemia type 1 experienced by untreated patients.[medical citation needed] Alkaptonuria is ... Clinical trials are ongoing to test whether nitisinone can prevent ochronosis experienced by older alkaptonuria patients.[ ... December 2002). "Natural history of alkaptonuria". The New England Journal of Medicine. 347 (26): 2111-21. doi:10.1056/ ...
2002). "Natural history of alkaptonuria". New England Journal of Medicine. 347 (26): 2111-21. doi:10.1056/NEJMoa021736. PMID ... consequently associated with alkaptonuria. It is an intermediate in the catabolism of aromatic amino acids such as ...
Once he applied Mendel's concepts to alkaptonuria, he published a paper in 1902 called "The Incidence of Alkaptonuria: A Study ... He also discovered alkaptonuria, understanding its inheritance. He served as Regius Professor of Medicine at the University of ... He cites various case studies and compares alkaptonuria to albinism in how it's inherited. In his paper, Garrod focuses on the ... Looking at his records, Garrod noticed that alkaptonuria was more likely to occur in the children of first cousins. Working ...
HPPD can be linked to one of the oldest known inherited metabolic disorders known as alkaptonuria, which is caused by high ... ISBN 978-0-08-024922-3. Garrod EA (1902). "The incidence of alkaptonuria: a study in chemical individuality". Lancet. 160 (4134 ...
Some of these diseases include alkaptonuria, albinism, achondroplasia, and phenylketonuria. For example, β-thalassemia may be ...
Alkaptonuria Tyrosinemia Phenylketonuria List of cutaneous conditions Findlay GH, et al. Ochronosis. Clinics in Dermatology ... The endogenous variety is an autosomal-recessive disease, known as alkaptonuria, that is caused by a lack of homogentisate ... The condition is most often associated with alkaptonuria, but can occur from exogenous administration of phenol complexes such ...
Alkaptonuria Inborn error of metabolism Ochronosis Shaw K, Bachur R (2016). Fleisher & Ludwig's Textbook of Pediatric Emergency ...
Blue discoloration may occur with alkaptonuria and rarely with Parkinson's disease. Erythroblastosis fetalis and biliary ...
GeneReviews/NCBI/NIH/UW entry on Alkaptonuria OMIM entries on Alkaptonuria Homogentisate+1,2-Dioxygenase at the US National ... Alkaptonuria has another effect in that it can cause the urine to turn black as well if let to sit for long enough to become ... Homegentisate 1,2 dioxygenase is involved in a type of metabolic diseases, called alkaptonuria. This disorder is due to the ...
... conducted studies on alkaptonuria, liver disease, diseases of the genitourinary system and acute infectious diseases. He also ...
HPPD can be linked to one of the oldest known inherited metabolic disorders known as alkaptonuria, which is caused by low ... "The incidence of alkaptonuria: a study in chemical individuality". Lancet. 160 (4134): 1616-1620. doi:10.1016/s0140-6736(01) ...
Mutations in some of these enzymes can lead to more severe diseases such as, phenylketonuria, alkaptonuria, and tyrosinemia. ...
Albinism Alkaptonuria Betalain Iodinated tyrosine derivatives Pauly reaction Tyramine Tyrosine sulfation Tyrosinemia Frey MN, ...
... alkaptonuria, cystinuria, and pentosuria at age 100 in 2008". J. Inherit. Metab. Dis. 31 (5): 580-98. doi:10.1007/s10545-008- ...
... based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was published ... alkaptonuria 2-hydroxyglutaric acidurias Disorders of fatty acid oxidation and mitochondrial metabolism Medium-chain acyl- ...
... and homogentisate in patients with alkaptonuria. Bile pigment Bilirubin Biliverdin Heme Stercobilin John E. Hall (2016). "The ...
Thus, defects in this enzyme may lead to severe metabolic disorders, including alkaptonuria, phenylketonuria and tyrosinaemia, ... has led to diseases such as alkaptonuria, phenylketonuria, and several forms of tyrosinemia. A lack of GSTZ1, specifically, ...
Acute intermittent porphyria Adrenoleukodystrophy (Schilder's disease) Alkaptonuria Aminolevulinic acid dehydratase deficiency ...
... beginning with the 1902 identification by Archibald Garrod of alkaptonuria as a Mendelian recessive trait, for the most part ...
Alkaptonuria Arrhythmogenic right ventricular dysplasia Atransferrinemia Autism Autosomal dominant optic atrophy ADOA plus ...
... and D Whipple's disease Albinism Alkaptonuria Amyloidosis Chediak-Higashi syndrome Cystinosis Fabry's disease Galactosemia ...
These traits include: Albinism (recessive) Achondroplasia:53 Alkaptonuria:53, 263 Ataxia telangiectasia:53 Brachydactyly ( ...
Alkaptonuria) and multifactorial/polygenic disorders (such as Diabetes, cardiovascular diseases and various types of cancer). ...
Alkaptonuria Aspartylglucosaminuria Methylmalonic acidemia Maple syrup urine disease Homocystinuria Tyrosinemia ...
Lebanon Alkaptonuria, or black urine disease Algemene Kunstzijde Unie, a Dutch company merged into Akzo Nobel Aku Aku ( ...
Alkaptonuria Congenital disorders of joints Diabetes doubles the risk of having a joint replacement due to osteoarthritis and ...
... alkaptonuria MeSH C18.452.648.066.210 - aminoaciduria, renal MeSH C18.452.648.066.210.250 - cystinuria MeSH C18.452.648.066. ...
Alkaptonuria is a rare disease; it occurs in one in 250,000 people, but is more common in Slovakia and the Dominican Republic. ... Alkaptonuria does not appear to affect life expectancy, although the last study on the topic is from 1985. The main impact is ... Alkaptonuria was one of the four diseases described by Sir Archibald Edward Garrod, as being the result of the accumulation of ... Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, ...
Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Explore symptoms, inheritance, ... Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the ... Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark ... Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate ...
Alkaptonuria is caused by the deficiency of a single enzyme called homogentisate 1,2 dioxygenase. This is responsible for the ... Alkaptonuria is an autosomal recessive disorder and thus each child in a family has a one-in-four chance of getting two copies ... Alkaptonuria is caused by the deficiency of a single enzyme called homogentisate 1,2 dioxygenase. This is responsible for the ... Alkaptonuria is diagnosed by detecting HGA in urine using gas chromatography-mass spectrometry, and is confirmed by genetic ...
Alkaptonuria is a rare genetic disorder that causes homogentisic acid to build up in your body. Learn about the symptoms, ... How Is Alkaptonuria Diagnosed?. Your doctor may suspect you have alkaptonuria if your urine turns dark brown or black when its ... What Is Alkaptonuria?. Alkaptonuria is a rare inherited disorder. It occurs when your body cant produce enough of an enzyme ... What Causes Alkaptonuria?. Alkaptonuria is caused by a mutation on your homogentisate 1,2-dioxygenase (HGD) gene. Its an ...
Make research projects and school reports about Alkaptonuria easy with credible articles from our FREE, online encyclopedia and ... alkaptonuria (alcaptonuria) An inherited metabolic disorder that results from a deficiency of the enzyme homogentisic acid ... alkaptonuria A Dictionary of Biology © A Dictionary of Biology 2004, originally published by Oxford University Press 2004. ... alkaptonuria A Dictionary of Nursing © A Dictionary of Nursing 2008, originally published by Oxford University Press 2008. ...
Alkaptonuria is one of 4 disorders originally defined as an inborn error of metabolism by Archibald Garrod in his Croonian ... encoded search term (Alkaptonuria (Black Urine Disease)) and Alkaptonuria (Black Urine Disease) What to Read Next on Medscape ... Alkaptonuria, also called black urine disease, alcaptonuria, and black bone disease, is one of 4 disorders originally defined ... Alkaptonuria (Black Urine Disease). Updated: Jul 12, 2017 * Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD more... ...
Genetics Home Reference related topics: Alkaptonuria Genetic and Rare Diseases Information Center resources: Alkaptonuria ... Study of Alkaptonuria. The safety and scientific validity of this study is the responsibility of the study sponsor and ... Patients with alkaptonuria who are at least one month old may be eligible for this study. Participants will be evaluated at NIH ... Alkaptonuria. Ochronosis. Amino Acid Metabolism, Inborn Errors. Metabolism, Inborn Errors. Genetic Diseases, Inborn. Metabolic ...
The aim of the Alkaptonuria Society (AS) is to create an information and support network for people diagnosed with alkaptonuria ... The Alkaptonuria Society provides news and information on its web site, and raises funds for research on this rare disorder. ...
What is Alkaptonuria?. Mutations in the HGD gene can cause the rare disorder alkaptonuria.. SOURCE: DNAi. ... Mutations in the HGD gene can cause the rare disorder alkaptonuria. The gene usually produces an enzyme that breaks down a ... Its a gene associated with a disease called alkaptonuria, which turns urine black and earwax red. In 1902, Archibald Garrod ... When this enzyme doesnt function properly, the homogentisic acid builds up and causes symptoms of alkaptonuria that include ...
How Is Alkaptonuria Treated?. Theres no specific treatment for alkaptonuria. You may be put on a low-protein diet. Your doctor ... What Is Alkaptonuria?. Alkaptonuria is a rare inherited disorder. It occurs when your body cant produce enough of an enzyme ... How Is Alkaptonuria Diagnosed?. Your doctor may suspect you have alkaptonuria if your urine turns dark brown or black when its ... What Causes Alkaptonuria?. Alkaptonuria is caused by a mutation on your homogentisate 1,2-dioxygenase (HGD) gene. Its an ...
My husband has Alcaptonuria (I hope I spelled that correctly). I know that individuals with Alcaptonuria have a problem ... Question: Alcaptonuria Ochronosis and mood swings. lmb - Mon Dec 31, 2007 1:33 pm. Share , ... Alcaptonuria is a rare genetic condition where the body is not able to break down phenylalanine or tyrosine (two of the amino ...
Alkaptonuria (AKU) results from defective homogentisate1,2-dioxygenase (HGD), causing degenerative arthropathy. The deposition ... Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.. [Marcella Laschi, ...
A report of the occurrence of alcaptonuria in two children of a Negro family is presented. Other members of the family were ...
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... disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Alkaptonuria ... Alkaptonuria Title Other Names:. AKU; Alcaptonuria; Ochronosis, hereditary; AKU; Alcaptonuria; Ochronosis, hereditary; ... Alkaptonuria is caused by mutations. in the HGD gene. . It is inherited in an autosomal recessive. fashion.[1] There is still ... The Alkaptonuria Society 66 Devonshire Road Cambridge, CB1 2BL United Kingdom Telephone: +44 (0)1223 322897 (9am - 5pm GMT) E- ...
MalaCards based summary : Alkaptonuria, also known as alcaptonuria, is related to ochronosis and exogenous ochronosis, and has ... Wikipedia : 72 Alkaptonuria (black urine disease, black bone disease, or alcaptonuria) is a rare inherited genetic... more... ... MalaCards integrated aliases for Alkaptonuria:. Name: Alkaptonuria 54 12 72 23 50 24 25 56 71 29 13 52 42 14 69 ... MalaCards organs/tissues related to Alkaptonuria:. 39 Heart, Kidney, Prostate, Skin, Bone, Eye, Liver ...
The Alkaptonuria Society The Alkaptonuria Society 66 Devonshire Road Cambridge, CB1 2BL United Kingdom Telephone: +44 (0)1223 ... Alkaptonuria Synonyms: AKU, Alcaptonuria, Ochronosis, hereditary, Alkaptonuric ochronosis, Homogentisic acid oxidase deficiency ...
... is part of a group of conditions known as an inborn error of metabolism. ... Alkaptonuria is a rare condition in which a persons urine turns a dark brownish-black color when exposed to air. ... Alkaptonuria Alkaptonuria. Diseases and Conditions AKU; Alcaptonuria; Homogentisic acid oxidase deficiency; Alcaptonuric ... Alkaptonuria is a rare condition in which a persons urine turns a dark brownish-black color when exposed to air. Alkaptonuria ...
Editor-Alkaptonuria (AKU) is a disorder of the catabolism of aromatic amino acids. A defect of homogentisate 1,2 dioxygenase ( ... 1997) Cloning of the homogentisate 1,2 dioxygenase gene, the key enzyme of alkaptonuria in mouse. Mamm Genome 8:168-171. ... 1958) The nature of the defect in tyrosine metabolism in alkaptonuria. J Biol Chem 230:251-260. ... 1998) Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood. Am J ...
BACKGROUND: Alkaptonuria (AKU) is a rare metabolic disease caused by deficiency of homogentisate 1,2 dioxygenase, an enzyme ... Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. ... Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. Annals of the Rheumatic ...
Analysis of cartilage biomarkers of aging and turnover in the osteoarthropathy of alkaptonuria. ... Analysis of cartilage biomarkers of aging and turnover in the osteoarthropathy of alkaptonuria. In: UNSPECIFIED. ...
It is difficult to estimate the number of cases of alkaptonuria because newborn screening for alkaptonuria is not widely ... It is difficult to estimate the number of cases of alkaptonuria because newborn screening for alkaptonuria is not widely ... Alkaptonuria is caused by a defect, or mutation, in the HGD gene. This gene provides instructions for making an enzyme called ... General: Because alkaptonuria is inherited, the only known risk factor is a family history of the disorder. Men and women are ...
Alkaptonuria is an inherited disorder of metabolism of the tyrosine due to a defect in the enzyme homogentisate dioxygenase ( ... Alkaptonuria is inherited in an autosomal recessive manner, meaning the individual has inherited two abnormal copies of the HGD ... Confirmation of alkaptonuria is usually sufficient with urine organic acid analysis but, in certain individuals, should include ... Failure to demonstrate homogentistic acid effectively will rule out alkaptonuria. Other causes of onchronosis and arthritis/ ...
Tags: AKU, AKU Society, alkaptonuria, black bone disease, first genetic disease discovered, nonprofit partners, nonprofit ... PatientsLikeMe and AKU Society to Develop Worlds First Open Registry for Alkaptonuria Patients. Posted January 9th, 2013 by ... global registry for patients with alkaptonuria (AKU), one of the worlds rarest diseases and the first genetic disease ...
... On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full ... Ranked list of diseases related to "alkaptonuria"Drugs, active principles and "alkaptonuria"Medicinal plantsQuestions and ... Alkaptonuria. An inborn error of amino acid metabolism resulting from a defect in the enzyme homogentisate 1,2-dioxygenase, an ...
... AlkaptonuriaClassification & external resources Homogentisic acid ICD-10 E70.2 ICD-9 270.2 OMIM 203500 DiseasesDB ... Alkaptonuria (black urine disease or alcaptonuria) is a rare inherited genetic disorder of tyrosine metabolism. This is an ... Coronary artery disease may be accelerated in alkaptonuria.[1] A distinctive characteristic of alkaptonuria is that ear wax ... Alkaptonuria itself is asymptomatic, but the sclera of the eyes may be pigmented (often only at a later age)[1] and the skin is ...
Alkaptonuria is a rare autosomal recessive genetic disorder in which the body cannot process the amino acids phenylalanine and ... Learn and reinforce your understanding of Alkaptonuria. Check out our video library. ... Alkaptonuria is a rare autosomal recessive genetic disorder in which the body cannot process the amino acids phenylalanine and ...
... alcaptonuria; homogentisic acid oxidase deficiency; ochronosis This is an autosomal recessive condition of homogentisic acid ... The name alkaptonuria originates from the dark colour of the urine due to the high level of 2,5-dehydroxyphenylacetic acid from ... Synonyms:AKU, alcaptonuria; homogentisic acid oxidase deficiency; ochronosis This is an autosomal recessive condition of ... de Haas V, Carbasius Weber EC, de Klerk JB, et al; The success of dietary protein restriction in alkaptonuria patients is age- ...
Diagnosis of Alkaptonuria. Diagnosis of alkaptonuria can be done if a person is suspected of experiencing symptoms of this ... Symptoms of Alkaptonuria. Symptoms of alkaptonuria may occur from infancy, although often these symptoms are neglected because ... Alkaptonuria Treatment. Handling action is imperative when a person is diagnosed with alkaptonuria. If this condition is ... Alkaptonuria is a rare disorder experienced by a person during homogentisic acid buildup in the body. As a result, the urine or ...
  • Endogenous ochronosis (alkaptonuria). (medlineplus.gov)
  • Alkaptonuria is a rare autosomal recessive disorder in which homogentisic acid accumulates and destroys connective tissue and bone, creating a condition called ochronosis. (clinicaltrials.gov)
  • The three major features of alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, and arthritis of the spine and larger joints. (nih.gov)
  • The three main features of alkaptonuria (AKU) are the presence of a substance called homogentisic acid (HGA) in the urine, ochronosis and arthritis . (nih.gov)
  • Alkaptonuria, also known as alcaptonuria , is related to ochronosis and exogenous ochronosis , and has symptoms including nephrolithiasis , aminoaciduria and arthritis . (malacards.org)
  • Alkaptonuria , also called endogenous ochronosis , is a rare metabolic autosomal recessive disorder. (bvsalud.org)
  • Ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria , a metabolic disorder. (medscape.com)
  • Ochronosis was defined by Virchow who histologically described the connective tissue in alkaptonuria, given the cartilage's ochre, or yellow, hue under the microscope. (medscape.com)
  • Though low back is a common symptom of alkaptonuria but, in the absence of ochronosis it is rare. (jocr.co.in)
  • Later on laboratory and the radiological investigation patient was diagnosed to have alkaptonuria without ochronosis. (jocr.co.in)
  • Though alkaptonuria is a very rare disease, and the occurrence of low back-ache in absence of ochronosis is much rarer. (jocr.co.in)
  • The presence of ochronosis and the darkening of the urine due to excess levels of homogentisic acid confirmed the diagnosis of alkaptonuria. (cmaj.ca)
  • 2 Ochronosis-related arthropathy, including lumbosacral ankylosis, and discoloration of the urine due to elevated levels of homogentisic acid constitute the main manifestations of alkaptonuria in adults. (cmaj.ca)
  • Irregularities in the heart rhythm and heart failure affect a significant proportion of people with alkaptonuria (40% and 10% respectively). (wikipedia.org)
  • In people with alkaptonuria, both copies of the gene contain abnormalities that mean that the body cannot produce an adequately functioning enzyme. (wikipedia.org)
  • People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. (medlineplus.gov)
  • People with alkaptonuria also have urine that turns dark brown or black when it's exposed to air. (healthline.com)
  • For example, NORD reports that approximately half of people with alkaptonuria need a shoulder, knee, or hip replacement, often by age 50 or 60. (healthline.com)
  • The life expectancy for people with alkaptonuria is fairly normal. (healthline.com)
  • Coronary artery disease may develop earlier in life in people with alkaptonuria. (baptistjax.com)
  • Kidney stones and prostate stones may be more common in people with alkaptonuria. (baptistjax.com)
  • However, a significant number of people with alkaptonuria do not have black urine. (loveysmarket.com)
  • More than 65 mutations in the HGD gene have been identified in people with alkaptonuria. (nih.gov)
  • alkaptonuria ( alcaptonuria ) An inherited metabolic disorder that results from a deficiency of the enzyme homogentisic acid oxidase, which is required for the complete breakdown of the amino acids tyrosine and phenylalanine. (encyclopedia.com)
  • Alkaptonuria, also called black urine disease, is a rare inherited metabolic disorder characterized by dark brown or black urine and arthritis in adulthood. (loveysmarket.com)
  • Errors in amino acid metabolism conclude some correlations between biochemical and pathological conditions, for example, alkaptonuria , an inherited metabolic disorder is caused by the absence of enzyme homogentisate oxidase due to which accumulation of homogentisate occurs and is excreted in urine, which turns dark black on standing due to oxidation. (thefreedictionary.com)
  • Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system involvement such as ochronotic arthropathy, renal, urethral and prostatic calculi, cardiac valvular lesions and pigmentation of the skin, sclera, cartilage and other connective tissues. (who.int)
  • Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase, the only enzyme capable of catabolizing homogentisic acid (HGA). (medscape.com)
  • What Are the Symptoms of Alkaptonuria? (healthline.com)
  • Instead, we will examine patients, measure baseline excretion of homogentisic acid on repeated 24-hour urines, and characterize the signs and symptoms of alkaptonuria at different ages. (clinicaltrials.gov)
  • When this enzyme doesn't function properly, the homogentisic acid builds up and causes symptoms of alkaptonuria that include arthritis, black urine and reddish earwax. (dnalc.org)
  • Alkaptonuria is usually diagnosed based on symptoms of joint discomfort and skin discoloration. (loveysmarket.com)
  • It is difficult to estimate the number of cases of alkaptonuria because newborn screening for alkaptonuria is not widely practiced and some people who have a mutation that causes the disorder do not show symptoms. (loveysmarket.com)
  • Both parents of an individual with alkaptonuria are carriers and do not manifest any symptoms of disease. (neurologyadvisor.com)
  • The main symptoms of alkaptonuria are due to the accumulation of homogentisic acid in tissues. (chemeurope.com)
  • Symptoms of alkaptonuria may occur from infancy, although often these symptoms are neglected because they are initially not clearly visible. (teroes.com)
  • Diagnosis of alkaptonuria can be done if a person is suspected of experiencing symptoms of this disease, such as urine is dark brown or black if exposed to air. (teroes.com)
  • Alkaptonuria may present with symptoms and signs such as severe arthritis of the fingers, and joints of the knee, arthralgia and pigmentation of the neck, ears, thorax, conjunctiva and nasal bridge. (medicalrealm.net)
  • Our findings document a reversal of bone abnormalities and clinical symptoms in a case of alkaptonuria. (elsevier.com)
  • We report the first case of alkaptonuria with ochronotic arthropathy presenting with recurrent acute anterior uveitis as the initial manifestation. (who.int)
  • Alkaptonuria is caused by the deficiency of a single enzyme called homogentisate 1,2 dioxygenase. (news-medical.net)
  • BACKGROUND: Alkaptonuria (AKU) is a rare metabolic disease caused by deficiency of homogentisate 1,2 dioxygenase, an enzyme involved in tyrosine catabolism, resulting in increased circulating homogentisic acid (HGA). (lancs.ac.uk)
  • Alkaptonuria is an amino acid metabolism disorder characterized by (enzyme) deficiency. (osmosis.org)
  • If the diagnosis of alkaptonuria is suspected, it can be confirmed or excluded by collecting urine for 24 hours and determining the amount of homogentisic acid by means of chromatography. (wikipedia.org)
  • Family history is very useful in making a diagnosis of alkaptonuria. (healthline.com)
  • The diagnosis of alkaptonuria needs to be suspected before diagnostic testing can be performed, using paper chromatography and thin layer chromatography . (chemeurope.com)
  • The findings are compatible with the diagnosis of alkaptonuria . (bvsalud.org)
  • Alkaptonuria diagnosis is made based on elevated urinary homogentisic acid. (empr.com)
  • Early diagnosis though being "diagnosis of exclusion" for low back-ache, high index of suspicion is advantageous as symptomatic treatment of the alkaptonuria can be initiated and evaluation of other systemic organs can be done in early stages itself. (jocr.co.in)
  • Garrod's diagnosis was alkaptonuria, which is caused by an abnormal build-up of homogentisic acid, or alkapton.In a normal person, the acid is broken down through a series of chemical reactions into carbon dioxide and water. (faqs.org)
  • it occurs in the urine in cases of alkaptonuria. (dictionary.com)
  • He reviewed 31 cases of alkaptonuria from his own practice and from the medical literature, and presentedhis findings to the Royal Medical and Chirurgical (Surgical) Society of London in 1899. (faqs.org)
  • Itoh K, Itimata M, Matsumoto K et al 1993 Anesthesia for a patient with alkaptonuria. (arthritisresearch.us)
  • A patient with alkaptonuria was treated with ascorbic acid (0.5 g/day) from the age of 4 years. (elsevier.com)
  • The authors present the case of a patient with alkaptonuria, diagnosed only during open heart surgery due to aortic stenosis. (ctsnet.org)
  • IMSEAR at SEARO: Acute anterior uveitis as the initial presentation of alkaptonuria. (who.int)
  • John SS, Padhan P, Mathews JV, David S. Acute anterior uveitis as the initial presentation of alkaptonuria. (who.int)
  • Low back ache as the primary presentation of alkaptonuria. (jocr.co.in)
  • Alkaptonuria, also called black urine disease, alcaptonuria, and black bone disease, is one of 4 disorders originally defined as an inborn error of metabolism by Archibald Garrod in his Croonian Lectures of 1902. (medscape.com)
  • Alkaptonuria was the first inborn error of metabolism described by Sir Archibald Garrod in 1902. (neurologyadvisor.com)
  • Garrod AE (1902) The incidence of alkaptonuria. (altmeyers.org)
  • In 1902, Garrod published a book called The Incidence of Alkaptonuria: a Study in Chemical Individuality. (dnalc.org)
  • We will start with the description of alkaptonuria by Garrod, in 1902, which he called a few years later an inborn error of metabolism. (coursera.org)
  • Garrod's classic paper on alkaptonuria was published in Lancet in 1902. (faqs.org)
  • As Garrod suggested, alkaptonuria is an autosomal recessive genetic trait, although an autosomal dominant transmission pattern in 3 generations in a nonconsanguineous family has been reported. (medscape.com)
  • Alkaptonuria was one of the four diseases described by Sir Archibald Edward Garrod, as being the result of the accumulation of intermediates due to metabolic deficiencies. (chemeurope.com)
  • DISCUSSION: In Early 1990s the study of genetic metabolic disorders began with the discovery of the first inborn errors of metabolism, alkaptonuria , pentosuria, cystinuria, and albinism by Sir Archibald Garrod [4]. (thefreedictionary.com)
  • Los Errores Innatos del Metabolismo (EIM) fueron descubiertos por Archibald Garrod a finales del siglo XIX estudiando cuatro enfermedades monogenicas: la alcaptonuria , el albinismo, la pentosuria y la cistinuria. (freethesaurus.com)
  • Garrod was studying the human disorder alkaptonuria. (dnalc.org)
  • Based on discussions with Mendel advocate William Bateson, Garrod deduced that alkaptonuria is a recessive disorder. (dnalc.org)
  • When a third child with alkaptonuria was born to the parents of Thomas P., Garrod suspected that something more than mere chance was involved. (faqs.org)
  • It was while walking home from the hospital one afternoon that Garrod conceived of the possibility that alkaptonuria might be a disease caused by heredity ( genetics ). (faqs.org)
  • These include the fact that newborn screening for alkaptonuria is much less widely practiced than that for phenylketonuria . (medscape.com)
  • Wolff JA, Barshop B, Nyhan WL et al (1989) Effects of ascorbic acid in alkaptonuria: Alterations in bezoquinone acetic acid and an ontogenic effect in infancy. (altmeyers.org)
  • CAMBRIDGE, Mass. - January 9, 2013 - PatientsLikeMe and the AKU Society are working together to create the first open, global registry for patients with alkaptonuria (AKU), one of the world's rarest diseases and the first genetic disease discovered. (patientslikeme.com)
  • By around age 60, 50% of individuals with alkaptonuria have a history of renal stones. (ai-online.info)
  • The black urine of patients with alkaptonuria results from renal excretion of HGA, while ochronotic pigment is a sequela of HGA accumulation in the connective tissues of individuals who are affected. (medscape.com)
  • abstract = "There is no definitive treatment protocol for alkaptonuria. (elsevier.com)
  • abstract = "In pilot studies of the usefulness of solid state nuclear magnetic resonance spectroscopy in characterizing chemical and molecular structural effects of alkaptonuria on connective tissue, we have obtained (13) C spectra from articular cartilage from an AKU patient. (lancs.ac.uk)
  • Alkaptonuria is a very rare inborn error of amino acid metabolism due to deficient homogentisic acid (HGA) oxidase enzyme leading to accumulation of HGA in plasma, cartilage, other tissues of human body and its excretion in urine. (jocr.co.in)
  • The incidence of alkaptonuria is equal in both sexes. (medscape.com)
  • If you're given treatments for alkaptonuria, it may not be for the condition itself because there no cure for alkaptonuria as of the moment. (watsonshealth.com.ph)
  • Mutations in the HGD gene cause alkaptonuria. (medlineplus.gov)
  • Alkaptonuria is caused by mutations in the HGD gene . (nih.gov)
  • Zatkova A et al (2003) Rapid detection methods for five HGO gene mutations causing alkaptonuria. (altmeyers.org)
  • Structural and functional analysis of mutations in alkaptonuria. (nih.gov)
  • Zatkova A, Chmelikova A, Polakova H, Ferakova E, Kadasi L. Rapid detection methods for five HGO gene mutations causing alkaptonuria. (nih.gov)
  • Alkaptonuria is caused by the changes in genes or mutations, especially on the homogentisate 1,2- dioxygenase gene. (watsonshealth.com.ph)
  • Alkaptonuria is caused by missense mutations in the HGD gene, which maps the human chromosome 3q21-q23, and the prevalence of the mutations is approximately 1:1 ,000 ,000-250, 000 in most ethnic groups (3). (thefreedictionary.com)
  • Alkaptonuria is a rare inborn error of metabolism caused by mutations in the gene responsible for the production of homogentisate 1,2-dioxygenase, an enzyme that plays an important role in the normal degradation of the aromatic amino acids tyrosine and phenylalanine. (thefreedictionary.com)
  • Alkaptonuria (AKU) is an ultra-rare, autosomal recessive disorder of tyrosine catabolism due to mutations within the homogentisate 1,2-dioxygenase (HGD) gene. (ljmu.ac.uk)
  • citation needed] Patients with alkaptonuria are asymptomatic as children or young adults, but their urine may turn brown or even inky black if collected and left exposed to open air. (wikipedia.org)
  • The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease. (clinicaltrials.gov)
  • Patients with alkaptonuria who are at least one month old may be eligible for this study. (clinicaltrials.gov)
  • The information from this study will enable doctors to better advise patients with alkaptonuria about their disease and treatment options. (clinicaltrials.gov)
  • Patients with alkaptonuria do not have enough HGAO. (loveysmarket.com)
  • Dark staining of the diapers sometimes can indicate alkaptonuria in infants, but most patients are not aware they have the disease until they are 30 to 40 years of age. (loveysmarket.com)
  • In patients with alkaptonuria, a substance called homogentisic acid accumulates in the blood and is very slowly deposited in bones, connective tissues, and urine. (loveysmarket.com)
  • Urine from patients with alkaptonuria may turn brownish black when exposed to air. (loveysmarket.com)
  • Patients with alkaptonuria can still live normally, although the quality of life can be disrupted due to pain problems in the joints or disorders of the heart's organs. (teroes.com)
  • Patients with alkaptonuria often experience pain in joints or joints feel stiff. (teroes.com)
  • Patients with alkaptonuria may experience anxiety or depression due to disrupted health conditions throughout life. (teroes.com)
  • Alkaptonuria patients have urine that turns dark when exposed to air. (watsonshealth.com.ph)
  • Now he receives dozens of em ails from patients with alkaptonuria and doctors from around the world. (thefreedictionary.com)
  • ApreciseKUre is a multi-purpose digital platform facilitating data collection, integration and analysis for patients affected by Alkaptonuria (AKU), an ultra-rare autosomal recessive genetic disease. (cdc.gov)
  • Up to 25% of patients with alkaptonuria do not have the characteristic dark urine staining, and many patients remain undiagnosed until adulthood. (medscape.com)
  • Patients with alkaptonuria should be informed that they will have a normal life span, despite pigmentary alterations and arthritis that materialize in mid life. (medscape.com)
  • Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein. (wikipedia.org)
  • Alkaptonuria ( black urine disease or alcaptonuria ) is a rare inherited genetic disorder of tyrosine metabolism. (chemeurope.com)
  • Alkaptonuria is a rare autosomal recessive genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, leading to accumulation of an intermediate substance called homogentisic acid in the blood and tissues. (osmosis.org)
  • Alkaptonuria is a genetic disorder inherited from parents. (teroes.com)
  • Alkaptonuria, a rare genetic disorder, affects one in one million people worldwide. (medicaldialogues.in)
  • Alkaptonuria is a rare genetic disorder of tyrosine metabolism (1). (ctsnet.org)
  • Alkaptonuria is a rare autosomal recessive genetic disorder that occurs with an incidence of 1 case in 250,000 - 1 million live births (3). (ctsnet.org)
  • Alkaptonuria (AKU) results from defective homogentisate1,2-dioxygenase (HGD), causing degenerative arthropathy. (sigmaaldrich.com)
  • In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes. (clinicaltrials.gov)
  • The build-up of homogentisic acid in the cartilage causes arthritis in many adults with alkaptonuria. (baptistjax.com)
  • Life expectancy is normal, although aging with alkaptonuria is associated with progressive disability related to arthritis. (loveysmarket.com)
  • The buildup of homogentisic acid in the cartilage causes arthritis in about 50% of older adults with alkaptonuria. (loveysmarket.com)
  • Hello lmb, Alcaptonuria is a rare genetic condition where the body is not able to break down phenylalanine or tyrosine (two of the amino acids). (doctorslounge.com)
  • E ditor -Alkaptonuria (AKU) is a disorder of the catabolism of aromatic amino acids. (bmj.com)
  • Vavuranakis M,Triantafillidi H, Stefanadis C et al 1998 Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome . (arthritisresearch.us)
  • All of the findings pointed to alkaptonuria with ochronotic aortic valvulopathy. (ctsnet.org)
  • Alkaptonuria occurs due to accumulation of phenylalanine (precursor of tyrosine ), tyrosine and homogentisic acid oxidase / intermediate form in the breaking down of tyrosine. (medicalrealm.net)
  • Alkaptonuria may lead to homogentisic acid oxidase defective formation. (medicalrealm.net)
  • Alkaptonuria is an inherited disorder of metabolism of the tyrosine due to a defect in the enzyme homogentisate dioxygenase (HGD). (neurologyadvisor.com)
  • Coronary artery disease may be accelerated in alkaptonuria. (chemeurope.com)
  • In 1923, his studies on alkaptonuria, cystinuria, pentosuria, and albinism were published as a book: Inborn Errors of Metabolism. (dnalc.org)
  • The disease Alkaptonuria had stiffened and blackened Delhi businessman Shahbuddin's knee joints, making him unable to walk for 10 long years. (medicaldialogues.in)
  • In alkaptonuria the HGD enzyme cannot metabolize the homogentisic acid (generated from tyrosine) into 4-maleylacetoacetate, and homogentisic acid levels in the blood are a hundredfold higher than would normally be expected, despite the fact that a substantial amount is eliminated into the urine by the kidneys. (wikipedia.org)
  • In alkaptonuria, the accumulation of HGA inhibits collagen cross-linking by affecting a crucial enzyme in collagen synthesis, leading to a diminution of structural collagen integrity. (medscape.com)
  • Alkaptonuria is a rare autosomal recessive metabolic disease in which the homogentisate 1,2-dioxygenase enzyme is absent, resulting in raised blood levels of homogentisic acid. (cmaj.ca)
  • It's a gene associated with a disease called alkaptonuria, which turns urine black and earwax red. (dnalc.org)
  • An important gene associated with Alkaptonuria is HGD (Homogentisate 1,2-Dioxygenase), and among its related pathways/superpathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism . (malacards.org)
  • Alkaptonuria is caused by a mutation on your homogentisate 1,2-dioxygenase (HGD) gene. (healthline.com)
  • Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria. (sigmaaldrich.com)
  • Alkaptonuria is a rare autosomal recessive disorder in which deficient activity of homogentisic acid dioxygenase leads to the accumulation of homogentisic acid in connective tissues. (empr.com)
  • Alkaptonuria is caused by a defect, or mutation, in the HGD gene. (loveysmarket.com)
  • Alkaptonuria features a defect in the biochemical pathway by which phenylalanine and tyrosine are normally degraded into fumaric and acetoacetic acid. (medscape.com)
  • Alkaptonuria or black urine disease is an inherited disorder where a chemical called homogentisic acid accumulates in the tissues and body fluids staining them dark brown. (medindia.net)
  • Reddy DR, PrasasVSS 1998 Alkaptonuria presenting as lumbar disc prolapse: case report and review of the literature. (arthritisresearch.us)
  • Farzannia A et al (2003) Alkaptonuria and lumbar disc herniation. (altmeyers.org)
  • Srsen S, Müller CR, Fregin A, Srsnova K. Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype. (nih.gov)