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: | https://eprints.ugd.edu.mk/id/eprint/13990 |
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