Alkaptonuria: A very rare metabolic disorder.

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dc.contributor.authorAquaron, Robert
dc.date.accessioned2014-02-04T06:08:01Z
dc.date.available2014-02-04T06:08:01Z
dc.date.issued2013-10
dc.description.abstractAlkaptonuria (AKU) is a very rare autosomal recessive disorder of tyrosine metabolism in the liver due to deficiency of homogentisate 1,2 dioxygenase (HGD) activity, resulting in the accumulation of homogentisic acid (HGA). Circulating HGA pass into various tissues through-out the body, mainly in cartilage and connective tissues, where its oxidation products polymerize and deposit as a melanin-like pigment. Gram quantities of HGA are excreted in the urine. AKU is a progressive disease and the three main features, according the chronology of appearance, are: darkening of the urine at birth, then ochronosis (blue-dark pigmentation of the connective tissue) clinically visible at around 30 yrs in the ear and eye, and finally a severe ochronotic arthropathy at around 50 yrs with spine and large joints involvements. Cardiovascular and renal complications have been described in numerous case report studies. A treatment now is available in the form of a drug nitisinone, which decreases the production of HGA. The enzymatic defect in AKU is caused by the homozygous or compound heterozygous mutations within the HGD gene. This disease has a very low prevalence (1:100,000-250,000) in most of the ethnic groups, except Slovakia and Dominican Republic, where the incidence has shown increase up to 1:19,000. This review highlights classical and recent findings on this very rare disease.en_US
dc.identifier.citationAquaron Robert. Alkaptonuria: A very rare metabolic disorder. Indian Journal of Biochemistry & Biophysics. 2013 Oct; 50(5): 339-344.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/150243
dc.language.isoenen_US
dc.source.urihttps://nopr.niscair.res.in/handle/123456789/22650en_US
dc.subjectAlkaptonuriaen_US
dc.subjectHomogentisic aciden_US
dc.subjectMutation analysisen_US
dc.subjectOchronosisen_US
dc.subjectOchronotic arthropathyen_US
dc.subject.meshAlkaptonuria --complications
dc.subject.meshAlkaptonuria --genetics
dc.subject.meshAlkaptonuria --metabolism
dc.subject.meshAlkaptonuria --therapy
dc.subject.meshHomogentisic Acid --metabolism
dc.subject.meshHumans
dc.subject.meshMelanins --biosynthesis
dc.subject.meshOchronosis --complications
dc.titleAlkaptonuria: A very rare metabolic disorder.en_US
dc.typeArticleen_US
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