Alkaptonuria
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).
4-Hydroxyphenylpyruvate Dioxygenase
Dioxygenases
Hyperpigmentation
Scleral Diseases
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)
Study of Alkaptonuria - Full Text View - ClinicalTrials.gov
Alkaptonuria facts, information, pictures | Encyclopedia.com articles about Alkaptonuria
Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. - Lancaster EPrints
Suitability of Nitisinone in Alkaptonuria 2 - Full Text View - ClinicalTrials.gov
Analysis of cartilage biomarkers of aging and turnover in the osteoarthropathy of alkaptonuria. - Lancaster EPrints
What Is Biochemistry - Alkaptonuria - Medicalrealm
Biography 13: Sir Archibald Edward Garrod (1857-1936) :: DNA Learning Center
SIFU: maafkan aku.................
Alkaptonuria
Alkaptonuria - A&I Online - Anästhesiologie & Intensivmedizin
Masih Ada Plan B: Aku Memang Hyperhidrosis!
aku Cik Rien ~: ~malam yang tenang~
Jejaka Tampan: May 2011
di sini bermula: aku dah penat......
Teman Berbisik: 2011
I Am BabyPhaT: June 2011
PREMIUM BEAUTIFUL * Entrepreneur * Sha Khalid
Aku..Kulat dan Anggur..
aku dah selamat menjadi ISTERI kepada mohd noradli bin mohamad yusop.
October 2010
CORETAN HIDUPKU: 2010
what u give, u get back!!: Peristiwa pukul 2 pagi ahad, yang pasti, aku dan speckybee takkan lupakan sampai bila-bila..
what u give, u get back!!: Peristiwa pukul 2 pagi ahad, yang pasti, aku dan speckybee takkan lupakan sampai bila-bila..
tiga-satu-lima: PAGIitu
Taufik Jusoh: Kisah benar aku jadi peragut kerana mereka.
adventure: February 2012
Masalah muka - breakouts. Rentetan kisah seorang perempuan. - Farahin.
NinaAz the Beauty of Life: JERAGAT, pigmentasi.. warghhhh! STRESS?
suziana: September 2010
Aku Betul...!: October 2007
Cheek Seety Official Blogger
SPENDA PINTAL GETAH: upin dan upin dari retina aku
November 2010
Life is beautiful...dont waste it. : 06/01/2014 - 07/01/2014
SIFU: akhirnya dah berakhir....
LaDySyaQs House: 2011
AKU DAN KAU
cinderellas story
I Am BabyPhaT: 2011
rosy.lane: batas
capital G: ini serious
Story Of Life and Love: tasik dayang bunting....
kisah.klassik.untuk.masa.depan: Buah hati demam...
Gadis & Hijab.: episod 2 : RAYA !!!
Awas Demam Chikungunya...
Koridor Sunyi Selamanya: no bruises no biopsy!
Alkaptonuria - Wikipedia
Alkaptonuria | Doctor | Patient
Alkaptonuria - Altmeyers Encyclopedia - Department Dermatology
homogentisic acid
William Gahl, M.D., Ph.D. | Principal Investigators | NIH Intramural Research Program
5:22 pm
UniProtKB/SwissProt variant VAR 073092
Search
Kak Mahs Blog ~~: Selamat Tahun Baru
The 8th European Conference on Rare Diseases and Orphan Products (ECRD) In Edinburgh - The AKU Society
LIFE IS A GREAT BUNDLE OF LITTLE THINGS: the art of pig = swine flu
LIFE IS A GREAT BUNDLE OF LITTLE THINGS: jiwa kacau
Ochronosis: Background, Pathophysiology, Epidemiology
Disorders of Carbohydrate Metabolism and Amino Acid Metabolism
Urină din osteoartrități
Dark Urine and Asacol? - Crohns Disease - HealingWell.com Forum
Fadzleen Ezyani: August 2015
life is a mess but we move on.: December 2015
munirasajuti: its an OVARIAN CYST
Semalam Dalam Lipatan Sejarah.
SYAHRIN RAHIMI in the blog: AKU TRY GINKGO BILOBA - part 1
di sini bermula: hepy momen wif mummy danish
Aga Khan University (AKU) entry test preparation, AKU MCQs, past papers, Video lectures
What are some causes of dark urine pain - Things You Didnt Know
Pathologic Alterations of Canine and Feline Adrenal Glands
samsung sIII - VANILLA FREAK
All My Life: im hate this feeling!!!
pengalaman cabut gigi geraham bongsu | Mummy Hezrina
pengalaman cabut gigi geraham bongsu | Mummy Hezrina
Self Insemination - Do It Yourself (DIY) IUI | surayajafar
Kamar Ilhamku: Julai 2011
something........: open u family day
Review Blog Bicara Makan Mahamahu | Iez Isaac
kit 5 outils bosch 18v
aku.OVER.the.PAGAR.: May 2009
Live Fast Die Young: 5/24/09 - 5/31/09
Live Fast Die Young: 5/24/09 - 5/31/09
Faroh Nur Alfani
Life.. Love.. n Happiness @ nettoash.blogspot.com: Cervical Left Neck Cysts
Bukan Dugong Biasa: Clean Desktop & Work Space
Alkaptonuria
Anonymous (18 March 2016). "Alkaptonuria". Retrieved 17 April 2018. Garrod AE (1902). "The incidence of alkaptonuria: a study ... Alkaptonuria is a rare disease; it occurs in one in 250,000 people, but is more common in Slovakia and the Dominican Republic.[ ... Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2 ... Alkaptonuria does not appear to affect life expectancy, although the latest study on the topic is from 1985. The main impact is ...
Garrod's tetrad
Pentosuria, albinism, cystinuria, alkaptonuria. Archibald E. Garrod. Inborn Errors of Metabolism: The Croonian Lectures ... The tetrad comprises four inherited metabolic diseases: albinism, alkaptonuria, cystinuria, and pentosuria. Trick to learn PACA ...
Dioxygenase
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 ...
Nitisinone
Alkaptonuria patients treated with nitisinone produce far less HGA than those not treated (95% less in the urine), because ... Nitisinone is being studied as a treatment for alkaptonuria. McKiernan PJ (2006). "Nitisinone in the treatment of hereditary ... 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.[ ...
Homogentisic acid
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 ...
Archibald Garrod
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 ...
4-Hydroxyphenylpyruvate dioxygenase
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 ...
Ochronosis
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 ...
Tyrosinemia
Alkaptonuria Inborn error of metabolism Ochronosis Shaw K, Bachur R (2016). Fleisher & Ludwig's Textbook of Pediatric Emergency ...
Human tooth
Blue discoloration may occur with alkaptonuria and rarely with Parkinson's disease. Erythroblastosis fetalis and biliary ...
Homogentisate 1,2-dioxygenase
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 ...
Paul Fürbringer
... conducted studies on alkaptonuria, liver disease, diseases of the genitourinary system and acute infectious diseases. He also ...
Maleylacetoacetate isomerase
Mutations in some of these enzymes can lead to more severe diseases such as, phenylketonuria, alkaptonuria, and tyrosinemia. ...
William A. Gahl
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., ...
Urinalysis
Dark brown or black urine can occur in a genetic disorder called alkaptonuria and in people with melanoma. Purple urine occurs ...
Tyrosine
Albinism Alkaptonuria Betalain Iodinated tyrosine derivatives Pauly reaction Tyramine Tyrosine sulfation Tyrosinemia Frey MN, ...
Pentosuria
... alkaptonuria, cystinuria, and pentosuria at age 100 in 2008". J. Inherit. Metab. Dis. 31 (5): 580-98. doi:10.1007/s10545-008- ...
Inborn errors of metabolism
... based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism, was ... alkaptonuria Combined malonic and methylmalonic aciduria (CMAMMA) 2-hydroxyglutaric acidurias Disorders of fatty acid oxidation ...
Tooth whitening
Alkaptonuria: Metabolic disorder which promotes the accumulation of homogentisic acid in the body and may cause brown colour ...
Urobilin
... and homogentisate in patients with alkaptonuria. Bile pigment Bilirubin Biliverdin Heme Stercobilin John E. Hall (2016). "The ...
GSTZ1
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, ...
List of skin conditions
Acute intermittent porphyria Adrenoleukodystrophy (Schilder's disease) Alkaptonuria Aminolevulinic acid dehydratase deficiency ...
Timeline of the history of genetics
When Garrod studied alkaptonuria, a disorder that makes urine quickly turn black due to the presence of gentisate, he noticed ...
Chromosome 3
Alkaptonuria Arrhythmogenic right ventricular dysplasia Atransferrinemia Autism Autosomal dominant optic atrophy ADOA plus ...
List of systemic diseases with ocular manifestations
... and D Whipple's disease Albinism Alkaptonuria Amyloidosis Chediak-Higashi syndrome Cystinosis Fabry's disease Galactosemia ...
Mendelian traits in humans
These traits include: Albinism (recessive): 53 Achondroplasia: 53 Alkaptonuria: 53, 263 Ataxia telangiectasia: 53 Brachydactyly ...
Congenital disorders of amino acid metabolism
Alkaptonuria Aspartylglucosaminuria Branched-chain keto acid dehydrogenase kinase deficiency Methylmalonic acidemia Maple syrup ...
Aku
Al-Kafaàt University, Beirut, Lebanon Alkaptonuria, or black urine disease Algemene Kunstzijde Unie, a Dutch company merged ...
List of MeSH codes (C18)
... alkaptonuria MeSH C18.452.648.066.210 - aminoaciduria, renal MeSH C18.452.648.066.210.250 - cystinuria MeSH C18.452.648.066. ...
List of diseases (A)
Alien hand syndrome Alkaptonuria Allain-Babin-Demarquez syndrome Allan-Herndon-Dudley syndrome Allanson-Pantzar-McLeod syndrome ...
Alkaptonuria: MedlinePlus Genetics
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
Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? - Lancaster EPrints
... an enzyme widely found within the human body is implicated in the ochronosis that occurs in alkaptonuria; an autosomal ... could it be a missing link in ochronosis in alkaptonuria? Medical Hypotheses, 91. pp. 77-80. ISSN 0306-9877 ... the causative molecule in alkaptonuria, that is present in excess. ...
IMSEAR at SEARO: Alkaptonuria.
Alkaptonuria | CheckOrphan
Tag Archives: Alkaptonuria. The Next Step in Developing A Cure for AKU. Posted on July 31, 2013. by CheckOrphan ... Posted in Rare Disease News , Tagged AKU, AKU Society, Alkaptonuria, Clinical trial, international clinical trial AKU, ... Alkaptonuria (AKU) was first discovered in 1902. More than 100 years later, the drug nitisinone has been identified as the ...
Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model
... TINTI L;SPREAFICO ... Alkaptonuria (AKU) is a rare autosomal recessive disease, associated with deficiency of homogentisate 1,2-dioxygenase activity ... Alkaptonuria (AKU) is a rare autosomal recessive disease, associated with deficiency of homogentisate 1,2-dioxygenase activity ... Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model.pdf non ...
What is Alkaptonuria? :: CSHL DNA Learning Center
Mutations in the HGD gene can cause the rare disorder alkaptonuria. The gene usually produces an enzyme that breaks down a ... When this enzyme doesnt function properly, the homogentisic acid builds up and causes symptoms of alkaptonuria that include ... Chromosome 3: gene associated with alkaptonuria, Matt Ridley. Matt Ridley talks about chromosome 3, gene associated with ...
5 Takeaways That I Learned About - Alkaptonuria
The Value of Financial Modelling in Business Planning Carrying out monetary modelling is an important element of company planning. It can assist a business identify what it should spend its cash on, and what it ought to not spend it on. There are numerous strategies to economic modelling. As an example, the top-down strategy includes considering the marketplace in its entirety. The financial modeler needs to make an informed guess regarding exactly how the macro-market will certainly change with time. After that, the version should start by figuring out how much the marketplace will certainly grow and also what its obstacles to access will be. A great model will certainly have clear differences between inputs as well as outcomes. Inputs stand for assumptions and also assumptions, while outcomes are the computations themselves. Frequently, economic versions are created according to a specific convention: blue stands for inputs, black represents solutions, and so forth. Nevertheless, financial ...
Alkaptonuria-associated aortic stenosis | Read by QxMD
Alkaptonuria is an autosomal recessive disorder of tyrosine metabolism, which results in accumulation of unmetabolized ... Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria. Sameer Thakur, Phuong Markman, ... Aortic stenosis and vascular calcifications in alkaptonuria. Hwaida Hannoush, Wendy J Introne, Marcus Y Chen, Sook-Jin Lee, ... Alkaptonuria-associated aortic stenosis. Zoe S Y Lok, Jacob Goldstein, Julian A Smith ...
Search
View of ALKAPTONURIA SYNDROME-A REVIEW
| International Journal of Current Pharmaceutical Research
Nevi of Ota and Ito: Background, Pathophysiology, Epidemiology
Melanonychia: Background, Pathophysiology, Etiology
MedlinePlus - Search Results for: NITISINONE
Introduction to GenBank - Concordia University
4-hydroxyphenylpyruvate | Semantic Scholar
Welcome to PhenoDis
1902: Orderly Inheritance of Disease Observed
A variety of mutations in the HGO gene can cause alkaptonuria; most of the mutations leading to disease change parts of the ... In 1990, a French group led by J.L. Guenet identified mice with the equivalent of alkaptonuria; blackened wood shavings in the ... Alkaptonuria has several symptoms, including dark urine, dark pigmentation of cartilage and other connective tissue, and ... Garrod, A. E. The incidence of alkaptonuria: a study in chemical individuality. Lancet, II:1616-1620. 1902. ...
Medicine | Features | Naked Scientists
Kids.Net.Au - Encyclopedia >...
VII - Genetic and Pediatric Diseases Flashcards by Joanna felix | Brainscape
DoctorYourself.com - Klenner Vitamin C Paper
Ascorbic acid administration will correct the alkaptonuria of the scorbutic guinea pig. Its effect on human alkaptonuria has ... This suggests a lead in the study of the metabolic abnormality Alkaptonuria in humans. ... galactosemia and alkaptonuria. It is worthy to note that Sealock and Goodland have ascribed to ascorbic acid the faculty of ...
Biochemistry For Dummies | BiggerBooks
Publication
Search | Global Index Medicus
Alkaptonuria is a rare genetic disease, in which amino acids and tyrosine cannot be processed. A 72-year-old man with a history ... From these findings and his past history of arthritis, we diagnosed alkaptonuria. The patient had an uneventful recovery. ... A Severe Aortic Stenosis and Coronary Calcifications in Alkaptonuria / 日本心臓血管外科学会雑誌 ...
Hyperkeratosis of palms and soles : clinical study - Indian Journal of Dermatology, Venereology and Leprology
Research Council - Research output
- Vrije Universiteit Brussel
Autosomal recessiveOchronosisHomogentisicArchibald GarrodNitisinoneGenetic diseaseGeneticsMolecularPhenylketonuriaMetabolicGarrodCalcificationsMutationsChromosomeArthritisUndergoneRareUrineStudyPeopleFamilyHomogentisic acidConnective tissueDeficiencyHomogentisate 1,2-dioxygenaseModel of alkaptonuriaOchronosis and alkaptonuriaDisorderOSTEOARTHRITISAlbinismMetabolismAortic stenosisOchronotic arthropathyGARRODBiochemicalBlack bone diseaseIntrone WJDiagnosisPatientsHomozygousMutationVariantsFindingsTreatmentConditionGenesFrequency
Autosomal recessive5
- Alkaptonuria (AKU) is a rare autosomal recessive disease, associated with deficiency of homogentisate 1,2-dioxygenase activity in the liver. (unisi.it)
- Alkaptonuria is an autosomal recessive disorder of tyrosine metabolism, which results in accumulation of unmetabolized homogentisic acid and its oxidized product in various tissues, including the heart. (qxmd.com)
- 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 is a genetic disorder that is inherited in an autosomal recessive manner, which means that both parents of the patient must (with a few rare exceptions) be either asymptomatic carriers of this disease or have the disease themselves. (contourderm.com)
- Alkaptonuria is a rare autosomal recessive metabolic disorder. (arthroplastytoday.org)
Ochronosis3
- Endogenous ochronosis (alkaptonuria). (medlineplus.gov)
- Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? (lancs.ac.uk)
- Black aorta in a patient with alkaptonuria (ochronosis). (qxmd.com)
Homogentisic2
- Tyrosinase under the right conditions shows alterations in its substrate specificity and may contribute to the darkening seen in AKU where it moves away from polymerising tyrosine but also homogentisic acid, the causative molecule in alkaptonuria, that is present in excess. (lancs.ac.uk)
- 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. (cshl.edu)
Archibald Garrod3
- 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)
- Archibald Garrod observes that the disease alkaptonuria is inherited according to Mendelian rules. (genome.gov)
- In 1902, British physician Archibald Garrod, on the advice of his colleague, Bateson, demonstrated that alkaptonuria is inherited according to Mendelian rules and involves a rare recessive mutation. (genome.gov)
Nitisinone2
- Long-term study of nitisinone to treat alkaptonuria. (nih.gov)
- Use of nitisinone in patients with alkaptonuria. (semanticscholar.org)
Genetic disease2
- Alkaptonuria is a rare genetic disease, in which amino acids and tyrosine cannot be processed. (bvsalud.org)
- The AKU Society is a patient-led group for the debilitating genetic disease alkaptonuria (AKU). (surreycc.gov.uk)
Genetics1
- Zatkova A. An update on molecular genetics of Alkaptonuria (AKU). (medlineplus.gov)
Molecular1
- Molecular basis of Alkaptonuria and other metabolic disorders. (csic.es)
Phenylketonuria1
- These include the fact that newborn screening for alkaptonuria is much less widely practiced than that for phenylketonuria. (medscape.com)
Metabolic1
- Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome. (qxmd.com)
Garrod1
- Garrod, A. E. The incidence of alkaptonuria: a study in chemical individuality. (genome.gov)
Calcifications1
- Aortic stenosis and vascular calcifications in alkaptonuria. (qxmd.com)
Mutations1
- Mutations in the HGD gene cause alkaptonuria. (medlineplus.gov)
Chromosome1
- Human geneticists soon mapped the alkaptonuria mutation to a small portion of chromosome 3. (genome.gov)
Arthritis3
- People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. (medlineplus.gov)
- Alkaptonuria has several symptoms, including dark urine, dark pigmentation of cartilage and other connective tissue, and arthritis. (genome.gov)
- From these findings and his past history of arthritis, we diagnosed alkaptonuria. (bvsalud.org)
Undergone1
- We present two patients who have undergone successful aortic valve replacement for alkaptonuria-associated aortic stenosis along with a review of the literature. (qxmd.com)
Rare2
- Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria. (qxmd.com)
- It was about how they successfully managed to find the resources to create a treatment for Alkaptonuria, a very rare inherited disorder. (dariahupov.com)
Urine1
- Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. (medlineplus.gov)
Study1
- In this study, we present 5 distinct cases diagnosed with alkaptonuria. (arthroplastytoday.org)
People1
- Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic. (medlineplus.gov)
Family1
- Trace alkaptonuria through a family pedigree. (cshl.edu)
Homogentisic acid11
- Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. (nih.gov)
- 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)
- Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review. (medscape.com)
- Alkaptonuria is a rare genetic disorder in which there is a deficiency of the enzyme homogentisic acid oxidase, resulting in the accumulation of homogentisic acid and a characteristic blue-black discoloration of the skin and cartilage, called ochronosis. (medscape.com)
- 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)
- 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. (nih.gov)
- 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. (clinicaladvisor.com)
- Alkaptonuria diagnosis is made based on elevated urinary homogentisic acid. (clinicaladvisor.com)
- But in alkaptonuria, a substance produced along the way, homogentisic acid, cannot be broken down any further. (openaccessgovernment.org)
- Nitisinone blocks the production of homogentisic acid, which accumulates in alkaptonuria and forms polymers that bind to and destroy connective tissue. (nih.gov)
- People with alkaptonuria do not have enough of a particular enzyme, leading to a build up of a chemical in the body called homogentisic acid. (trendslam.com)
Connective tissue2
- The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. (nih.gov)
- 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)
Deficiency1
- Deficiency in the enzyme causes ALKAPTONURIA , an autosomal recessive disorder, characterized by homogentisic aciduria, OCHRONOSIS and ARTHRITIS . (nih.gov)
Homogentisate 1,2-dioxygenase2
- Felbor U, Mutsch Y, Grehn F, Müller CR, Kress W. Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. (medscape.com)
- Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database. (medscape.com)
Model of alkaptonuria2
- Mistry JB, Jackson DJ, Bukhari M, Taylor AM. A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria. (medscape.com)
- Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria. (unisi.it)
Ochronosis and alkaptonuria1
- At the present state of knowledge, no medical therapy for ochronosis and alkaptonuria is available. (medscape.com)
Disorder10
- Alkaptonuria is a rare, progressive and irreversible genetic metabolic disorder. (eestiarst.ee)
- Alkaptonuria is an inherited disorder of metabolism of the tyrosine due to a defect in the enzyme homogentisate dioxygenase (HGD). (thecardiologyadvisor.com)
- 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)
- Alkaptonuria, or "black urine disease", is a very rare inherited disorder that prevents the body from fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. (openaccessgovernment.org)
- It was about how they successfully managed to find the resources to create a treatment for Alkaptonuria, a very rare inherited disorder. (dariahupov.com)
- In 1902, Sir Archibald Garrod published the first example of a recessive human trait, alkaptonuria, a relatively harmless disorder. (cshl.edu)
- Alkaptonuria is a recessive human disorder. (cshl.edu)
- Remember alkaptonuria is a recessive disorder. (cshl.edu)
- Alkaptonuria is a type of metabolic disorder. (ingrossare-il-pene16.xyz)
- Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria. (nih.gov)
OSTEOARTHRITIS2
- His work commenced on a rare form of osteoarthritis, alkaptonuria, which is still studied in his lab. (berkeley.edu)
- More recently, another rare disease, alkaptonuria ("black bone disease"), has yielded clues about a very common condition: osteoarthritis. (trendslam.com)
Albinism1
- The 4 inborn errors of metabolism that he considered were albinism, alkaptonuria, pentosuria, and cystinuria. (en-academic.com)
Metabolism2
- Alkaptonuria was the first inborn error of metabolism described by Sir Archibald Garrod in 1902. (thecardiologyadvisor.com)
- Alcaptonuria is another condition caused by defective phenylalanine and tyrosine metabolism. (termedia.pl)
Aortic stenosis2
- Alkaptonuria-associated aortic stenosis. (medscape.com)
- Vavuranakis M, Triantafillidi H, Stefanadis C, Toutouzas P. Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome. (medscape.com)
Ochronotic arthropathy1
- Biochemical, pathological and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of the world literature (1584-1962). (medscape.com)
GARROD2
- 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)
- In alkaptonuria, which is usually congenital (Garrod, Erich Meyer), a derivate of the aromatic plum of the albumin molecule, the so-called alkapton, secreted, which is characterized as hemogentisic acid (dioxyphenyl acetic acid). (gluedideas.com)
Biochemical1
- Alkaptonuria features a defect in the biochemical pathway by which phenylalanine and tyrosine are normally degraded into fumaric and acetoacetic acid. (medscape.com)
Black bone disease1
- Nick Sireau, one of the CRDN founders and Chairman of the AKU Society and Findacure, is another good example in the work he has done to identify a treatment for his two sons, who have alkaptonuria (AKU), also known as black bone disease. (pharmaphorum.com)
Introne WJ1
- Introne WJ, Perry M, Chen M. Alkaptonuria. (medlineplus.gov)
Diagnosis2
- Early diagnosis of co-existent ß-thalassemia and alkaptonuria. (medscape.com)
- All patients entering this study will carry the diagnosis of alkaptonuria, although we will confirm this diagnosis during the admission. (nih.gov)
Patients8
- Aorticstenosis is the most common cardiovascular involvement in patients with alkaptonuria and sometimes surgical treatment may be needed. (eestiarst.ee)
- The success of dietary protein restriction in alkaptonuria patients is age-dependent. (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)
- 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. (nih.gov)
- Patients with alkaptonuria who are at least two years of age may be eligible for this study. (nih.gov)
- The information from this study will enable doctors to better advise patients with alkaptonuria about their disease and treatment options. (nih.gov)
- Assessment of Thyroid Function in Patients With Alkaptonuria. (nih.gov)
- In this article I consider the role of passing and performance in the everyday lives of alkaptonuria and vitiligo patients. (philpapers.org)
Homozygous6
- Despite many speculations that this polymer deposition is associated with cardiac pathology, no reports of mortality directly related to the homozygous state for alkaptonuria exist. (medscape.com)
- John and his grandmother are both homozygous for alkaptonuria. (cshl.edu)
- Based on this information, John's parents are: both homozygous for the alkaptonuria gene. (cshl.edu)
- No, if John's parents are homozygous, they would have alkaptonuria too. (cshl.edu)
- John is homozygous and inherited one copy of the alkaptonuria gene from each parent. (cshl.edu)
- John is homozygous and his wife is heterozygous for alkaptonuria. (cshl.edu)
Mutation2
- Alkaptonuria is inherited in an autosomal recessive manner, meaning the individual has inherited two abnormal copies of the HGD gene (i.e., each gene contains a mutation). (thecardiologyadvisor.com)
- Identification of the mutation in the alkaptonuria mouse model. (dbcls.jp)
Variants1
- Alkaptonuria in Russia: mutational spectrum and novel variants. (nih.gov)
Findings2
- Alkaptonuria should be suspected i n individuals with the following clinical findings and family history. (nih.gov)
- Musculoskeletal findings and disability in alkaptonuria. (medscape.com)
Treatment2
- The International Alkaptonuria Conference taking place in Cambridge on 10-11 January 2011 promises to be an exciting event that will accelerate the quest for a treatment for AKU, the first genetic disease ever discovered. (checkorphan.org)
- Alkaptonuria treatment consists of pain management, joint replacement, cardiac valve replacement and other supportive measures. (clinicaladvisor.com)
Condition1
- His work on this condition has lead him to also focus on arthritis and the turnover of joint tissues in response to disease(s) due to discoveries made whilst studying alkaptonuria. (berkeley.edu)
Genes1
- No, John wouldn't have alkaptonuria if he didn't inherit the genes from his parents. (cshl.edu)
Frequency1
- [ 7 ] The true frequency of alkaptonuria cannot be given with certainty for numerous reasons. (medscape.com)