Early-onset ocular ochronosis in a girl with alkaptonuria (aku) and a novel mutation in homogentisate 1,2-dioxygenase (HGD)

Gucev, Zoran and Slavevska, Nevenka and Laban, Nevenka and Danilovski, Dragan and Tasic, Velibor and Pop-Jordanova, Nada and Zatkova, A (2011) Early-onset ocular ochronosis in a girl with alkaptonuria (aku) and a novel mutation in homogentisate 1,2-dioxygenase (HGD). Contributions, Sec. Biol. Med. Sci., 32 (1). pp. 305-311. ISSN 0351–3254

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Abstract

Alkaptonuria (AKU) is a disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme homogentisate 1,2-dioxygenase (HGD). This recessive disease is caused by mutations in the HGD gene. We report a 14-year-old girl who was referred after presenting black urine. Careful examination revealed ochronosis of the conjunctiva. There was no affection of the cardiac valves. Elevated excretion of homogentisic acid in urine was found. Sequence analysis of the HGD gene from genomic DNA revealed that the patient is a compound heterozygote with a previously described mutation (c.473C > T, p.Pro158Leu), and a novel one (c.821C > T, p.Pro274Leu). Her mother is heterozygous for the novel mutation, while the brother is heterozygous for the previously described mutation. In summary, we describe an alkaptonuric patient with ocular ochronosis and a novel HGD mutation, c.821C > T, p.Pro274Leu.

Item Type: Article
Uncontrolled Keywords: Alkaptonuria, novel mutation, ocular ochronosis.
Subjects: Medical and Health Sciences > Health sciences
Divisions: Faculty of Medical Science
Depositing User: Biljana Kosturanova
Date Deposited: 15 Oct 2015 10:43
Last Modified: 15 Oct 2015 10:53
URI: http://eprints.ugd.edu.mk/id/eprint/13990

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