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Alkaptonuria: A Very Rare Metabolic Disorder

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Title Alkaptonuria: A Very Rare Metabolic Disorder
 
Creator Aquaron, Robert
 
Subject Alkaptonuria
Homogentisic acid
Mutation analysis
Ochronosis
Ochronotic arthropathy
 
Description 339-344
Alkaptonuria (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.
 
Date 2013-10-26T09:58:23Z
2013-10-26T09:58:23Z
2013-10
 
Type Article
 
Identifier 0975-0959 (Online); 0301-1208 (Print)
http://hdl.handle.net/123456789/22650
 
Language en_US
 
Rights CC Attribution-Noncommercial-No Derivative Works 2.5 India
 
Publisher NISCAIR-CSIR, India
 
Source IJBB Vol.50(5) [October 2013]