Alkaptonuria: 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.Homogentisate 1,2-Dioxygenase: 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.Ochronosis: 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).Homogentisic Acid4-Hydroxyphenylpyruvate Dioxygenase: An enzyme that catalyzes the conversion of 4-hydroxyphenylpyruvate plus oxygen to homogentisic acid and carbon dioxide. EC 1.13.11.27.Facial DermatosesCyclohexanones: Cyclohexane ring substituted by one or more ketones in any position.Dioxygenases: 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.Hyperpigmentation: 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.Nitrobenzoates: Benzoic acid or benzoic acid esters substituted with one or more nitro groups.Scleral Diseases: General disorders of the sclera or white of the eye. They may include anatomic, embryologic, degenerative, or pigmentation defects.Joint DiseasesOxygenases: Oxidases that specifically introduce DIOXYGEN-derived oxygen atoms into a variety of organic molecules.Encyclopedias as Topic: 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)Phenylalanine: An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE.EncyclopediasRare Diseases: 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.Electronic Mail: 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.Science: The study of natural phenomena by observation, measurement, and experimentation.BrazilSocial Sciences: Disciplines concerned with the interrelationships of individuals in a social environment including social organizations and institutions. Includes Sociology and Anthropology.Biological Science Disciplines: 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.Cytochrome-c Oxidase Deficiency: 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)Phenylpyruvic Acids: 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)Conjunctiva: The mucous membrane that covers the posterior surface of the eyelids and the anterior pericorneal surface of the eyeball.Tooth: One of a set of bone-like structures in the mouth used for biting and chewing.Tooth Bleaching: The use of a chemical oxidizing agent to whiten TEETH. In some procedures the oxidation process is activated by the use of heat or light.Tooth Discoloration: Any change in the hue, color, or translucency of a tooth due to any cause. Restorative filling materials, drugs (both topical and systemic), pulpal necrosis, or hemorrhage may be responsible. (Jablonski, Dictionary of Dentistry, 1992, p253)Tooth Bleaching Agents: Chemicals that are used to oxidize pigments in TEETH and thus effect whitening.Tooth Loss: The failure to retain teeth as a result of disease or injury.Tooth Crown: The upper part of the tooth, which joins the lower part of the tooth (TOOTH ROOT) at the cervix (TOOTH CERVIX) at a line called the cementoenamel junction. The entire surface of the crown is covered with enamel which is thicker at the extremity and becomes progressively thinner toward the cervix. (From Jablonski, Dictionary of Dentistry, 1992, p216)Directories as Topic: Lists of persons or organizations, systematically arranged, usually in alphabetic or classed order, giving address, affiliations, etc., for individuals, and giving address, officers, functions, and similar data for organizations. (ALA Glossary of Library and Information Science, 1983)Osteoarthritis: A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.Osteoarthritis, Knee: Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)Osteoarthritis, Hip: Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.DirectoryKnee Joint: A synovial hinge connection formed between the bones of the FEMUR; TIBIA; and PATELLA.Cartilage, Articular: A protective layer of firm, flexible cartilage over the articulating ends of bones. It provides a smooth surface for joint movement, protecting the ends of long bones from wear at points of contact.Phenylalanine Hydroxylase: An enzyme of the oxidoreductase class that catalyzes the formation of L-TYROSINE, dihydrobiopterin, and water from L-PHENYLALANINE, tetrahydrobiopterin, and oxygen. Deficiency of this enzyme may cause PHENYLKETONURIAS and PHENYLKETONURIA, MATERNAL. EC 1.14.16.1.Blood Substitutes: Substances that are used in place of blood, for example, as an alternative to BLOOD TRANSFUSIONS after blood loss to restore BLOOD VOLUME and oxygen-carrying capacity to the blood circulation, or to perfuse isolated organs.Hemoglobins: The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.Phenylalanine Ammonia-Lyase: An enzyme that catalyzes the deamination of PHENYLALANINE to form trans-cinnamate and ammonia.Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Molecular Biology: A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Disease: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.Students: Individuals enrolled in a school or formal educational program.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

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. ...
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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 ...
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 ...
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Führend in der deutschen Anästhesiologie - die auflagenstärkste Fachzeitschrift für Anästhesie, Intensivmedizin, Notfallmedizin und Schmerztherapie
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... ...
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 ...
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 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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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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 ...
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 ...
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____ ...
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 ...
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 ...
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 ...
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???????????????????????!!!!!!!!!!!!!!!!!!!!!!!!!!!! ...
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 ...
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 ...
Cam tok citanya. Masa bos ku nangga newspaper, aku tertangga jadual main bola di page paling belakang news ya. Terus ku madah, aku maok page ya..aku maok tampal di dinding. Terus ku nanyak sidak kengkawan seopis aku sidak nyokong team ney? Aku nang direct la madah aku nyokong Korea Selatan coz ya one of team Asia nok masuk WC and kuat. Lagipun ada bintang jersi no.7 sia si Park Ji Sung. Walaupun aku bukan tauk gilak pasal team Korea tok. Hanya kerana sidak team Asia and masa WC 2002 dolok sidak masuk semi-final. So, tiap sorang sidak choose la team sidak kedirik. Kakya bos ku nyokong Argentina, ngam2 agik kenak sama group dengan aku. Group B. Apa lagi alu lah membuak2 semangat aku maok menang walaupun dah sedia maklum Argentina ya bukan calang2 team juak. Dari sialah bermulanya semangat kamekorg seopis maok nangga bol. Dari sik kesah maok nangga WC aku terus jadi gila bol. Tiap pagi asal masok opis, keja aku ngecheck results. Di rumah sekda tv so, aku dapat update results dari internet jak la. ...
susah hati...itulah dugaan tuhan nak bagi....dugaan cukup hebat utk aku...yg baru nak membina keluarga...aku dah pun tender n ni bulan last aku keje...tp aku tak dpt keje lain lagi...itu yg merisaukan aku...bulan february ni aku dah start kene byr umah tp blum pindah lg sbb blum dpt kunci..so,means dat aku kene byr umah baru n umah sewa....total almost 2k...huh...dan bulan february jugak kitaorg g becuti kat langkawi ngn PIL...melayang lagi duit nnt...aku dah xmampu nak pkr semua masalah tue dgn keadaan kat ofis aku yg tunggang langgang..semua tanggungjawat aku yg pikul..xmampu sgt...xsanggup nak meluahkan kan hubby..xmo die tau kesusahan hati aku nie...bairlah..biarlah tuhan jer tahu isi hati aku skang nie ...
Dan bercakap tentang sikap manusia ni, pelik lah. Kita cukup payah nak bersyukur. Bukan orang lain, aku pun sama. Kini, aku mula belajar nak bersyukur dengan apa yang aku ada. Aku sekarang ni dah tak kisah sangat dengan benda-benda cam henpon, baju dan seumpamanya. Duit dah jadi benda yang x penting sangat dah. Aku cuma bila ada duit je jadi masalah, kalau x ada dalam poket, ookay pulak. Bila dah tak bersyukur dengan apa yang ada, mulalah pula nak mengambil hak orang lain. Aku setakat ni baju suar je kene rembat, [asrama lah katakan.. kadang2 tu "pinjam" kejap nak pergi jalan2 tmpat... pastu lupa nak "letak balik"... aku pun pernah buat.. hehehe... tapi pandai2lah letak balik... taun ni aku tak buat dah.. SPM beb, lagipun waden skang ni byk ada ilmu.. aku kan dak baek]. Ambil barang orang tu satu hal, tapi kenapalah hendakkan barang orang lain? Aku walaupun aku teringin sesuatu barang/benda tu, tak pernahlah aku sampai pikir nak mencuri. minta je la kat parent,[walaupun mintak tak pernah dapat] ...
Salam semua... sebenarnya kali ni aku bersiaran secara langsung dari ward A, Hospital Pantai Ampang, Selangor.. :D. Macamana boleh dapat penyakit paru-paru berair @ pneumonia nih?..hmmm, katanya doktor kelmarin, ada sejenis virus yang kuat dah berjaya masuk dalam paru-paru aku dan menyebarkan kuman-kuman sampaila aku jadi sesak nafas yang kronik. Mulanya aku selsema je, biasanya makan actifast 2 kali tu, Insyaallah dah boleh hilang. Kali ni melarat hingga aku dapat batuk. Kira normal la jugakkan, lepas selsema tu batuk pulak. Masalahnya, batuk aku menjadi lebih teruk hingga aku jadi sesak nafas tengah malam tu. Mintak tolong en. Nana urutkan belakang sebab rasa sakit ya amat belakang aku, pun x jalan. Sudahnya aku aku x dapat tido.. Pagi jumaat tu badan pun rasa macam nak demam, mata dah rasa panas. Lepas en. Nana hantar anak-anak pi sekolah, aku pun pi la klinik. Doktor kata teruk jugak lelah aku tu, biasalah lepas tu kena amik neb. Amik neb seround, x jalan..xdek perubahan. Kena pulak amik ...
ya. memang. aku rase aku tak layak langsung untuk ambik tanggungjawab ni, tapi bile aku terengat sorang member ni cakap, wajib berdakwah even kite tak sempurna. ye lah, tunggu nak diri sempurna memang taklah, sampai bile takkan. aku,kau awak awak awak dan awak bukan nabi bukan juga malaikat. ewah ayat! kite takkan sepi dari dosa. tapi kite ade jalan lain, mencegah diri dan orang lain menjauhi dari melakukan dosa. itulah peranan aku disitu. mencegah diri aku, dan jugak mengajak orang lain. dalam konteks diri aku ni, aku tak layak untuk mengajar orang care2 nak jauhi dosa camne, sebab sumerang dah tahu camne. so, aku lebih untuk same same dengan aku, menemani aku untuk same same jauhkan dari dosa dan same same dengan aku dekatkan diri dengan Allah ...
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Okay okay back to reality. Aku tak boleh nak jadikan aku sebagai contoh sebab anak-anak aku dua-dua girl. Ni nak cakap pasal kawan aku (ampun kawan...). Dia ada sepasang anak, dah kata sepasang maksudnya boy & girl la, si kakak umur 10, si adik umur 7 tahun, tinggal rumah atas [email protected] Rumah memang lawa la even comel, rumah tu ada 3 bilik, suppose si adik tu boleh asing bilik la kan? Tapi dia buat something dengan 3rd room tu, so ada 2 bilik je la. Dibaginya si adik ni share bilik dengan si kakak, katil asing-asing la. Tapi kan aku ni musykil la, macam mana si kakak & adik ni nak salin baju semua tu kan? Takkan ko tengok dinding sana aku tengok dinding sini ye dak? Aku ni bukan la nak kepo pikir hal orang tapi as parents aku kesian la kat si kakak tu, umur macam tu suppose ada her own private time for her girly stuffs u know. Aku tak nak la cakap pasal hukum hakam ni coz aku ni pun jahil gak, nanti aku cakap tak ke kena kondem kawkaw. Sebagai mak yang jugak perempuan (ada ka mak ...
NDUFV1 Alkaptonuria; 203500; HGD Allan-Herndon-Dudley syndrome; 300523; SLC16A2 Alopecia universalis; 203655; HR Alopecia, ...
Alkaptonuria patients treated with nitisinone produce far less HGA than those not treated (95% less in the urine), because ... Alkaptonuria is caused when an enzyme called homogentisic dioxygenase (HGD) is faulty, leading to a buildup of homogenisate. ... It is also being studied in the related condition alkaptonuria. It is marketed under the brand name Orfadin by the company ... It is hoped that if the trials are successful, nitisinone could also be licensed for treatment of alkaptonuria. There is no ...
Alkaptonuria is a genetic disease that results in a deficiency of homogentisate 1,2-dioxygenase, which is responsible for ... "Natural History of Alkaptonuria". New England Journal of Medicine. 347 (26): 2111-2121. doi:10.1056/NEJMoa021736. PMID 12501223 ...
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 ...
Alkaptonuria:[31] Metabolic disorder which promotes the accumulation of homogentisic acid in the body and may cause brown ...
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 low ... 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 condition is most often associated with alkaptonuria but can occur from exogenous administration of phenol complexes like ...
Blue discoloration may occur with alkaptonuria and rarely with Parkinson's disease. Erythroblastosis fetalis and biliary ...
The tetrad comprises four inherited metabolic diseases: albinism, alkaptonuria, cystinuria, and pentosuria. Archibald E. Garrod ...
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 ...
His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid ... Natural history of alkaptonuria. N Engl J Med, 347:2111-2121. 2002. Gahl W.A., Thoene J.G., Schneider J.A. Cystinosis. N Engl J ... Use of nitisinone in patients with alkaptonuria. Metabolism Clin Exptl, 54:719-728, 2005. Helip-Wooley, A., Westbroek, W., ...
Albinism Alkaptonuria Betalain Iodinated tyrosine derivatives Tyramine Tyrosine sulfation Tyrosinemia Pauly reaction IUPAC- ...
... alkaptonuria, cystinuria, and pentosuria at age 100 in 2008". J. Inherit. Metab. Dis. 31 (5): 580-98. doi:10.1007/s10545-008- ...
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) ...
... alcaptonuria, 2-hydroxyglutaric acidurias Disorders of fatty acid oxidation and mitochondrial metabolism E.g., Medium-chain ... based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was published ...
Alkaptonuria Inborn error of metabolism Ochronosis Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs ...
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, ...
... and homogentisate in patients with alcaptonuria. Bile pigment Bilirubin Biliverdin Heme Stercobilin Donald J. Voet; Judith G. ...
... beginning with the 1902 identification by Archibald Garrod of alkaptonuria as a Mendelian recessive trait, for the most part ...
... and D Whipple's disease Albinism Alkaptonuria Amyloidosis Chediak-Higashi syndrome Cystinosis Fabry's disease Galactosemia ...
Alkaptonuria Arrhythmogenic right ventricular dysplasia Atransferrinemia Autism Autosomal Dominant Optic Atrophy ADOA Plus ...
Alkaptonuria Aspartylglucosaminuria Methylmalonic acidemia Maple syrup urine disease Homocystinuria Tyrosinemia ...
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, ...
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. ...
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 ...
... 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- ...
... seen with alkaptonuria, a metabolic disorder. Additionally, ochronosis can occasionally occur from exposure to various ... Alkaptonuria. Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Seattle, Wash: University of Washington; May 12, 2016. [ ... Alkaptonuria is present at birth and is often diagnosed by discoloration of the diapers. Up to 25% of patients with ... Natural history of alkaptonuria revisited: analyses based on scoring systems. J Inherit Metab Dis. 2011 Dec. 34 (6):1141-51. [ ...
alkaptonuria. *alcaptonuria. - elite association - COSMIC cancer census association via MalaCards Search HPD in MalaCards View ...
... found in excess in the blood and urine of persons affected with alkaptonuria. See more. ... An intermediate of the metabolic breakdown of tyrosine and phenylalanine; it occurs in the urine in cases of alkaptonuria. Also ... found in excess in the blood and urine of persons affected with alkaptonuria. ...
It is generally caused by a rare genetic disease called alkaptonuria. People with this disease have a deficiency in an enzyme ...
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. 2003 May 9 [updated 2016 May 12]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, ... Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark ...
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 ...
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 ...
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 ...
OBJECTIVE:Alkaptonuria (AKU) is a rare genetic disease which results in severe early onset osteoarthropathy. It has recently ... Ochronosis in a murine model of alkaptonuria is synonymous to that in the human condition. ... Ochronosis in a murine model of alkaptonuria is synonymous to that in the human condition. Osteoarthritis and Cartilage, 20 (8 ...
The early onset and severe osteoarthropathy of alkaptonuria has major lessons for the pathogenesis of osteoarthritis. ... The early onset and severe osteoarthropathy of alkaptonuria has major lessons for the pathogenesis of osteoarthritis. In: ...
  • 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)
  • Alkaptonuria occurs worldwide, with the highest frequency seen in Slovakia and Dominican Republic, in which the prevalence approaches 1 case per 19,000 inhabitants. (medscape.com)
  • 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)
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