Presentation of 14 alkaptonuria patients from Turkey

AKBABA A. İ., ÖZGÜL R. K., DURSUN A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.2, pp.289-294, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 2
  • Publication Date: 2020
  • Doi Number: 10.1515/jpem-2019-0163
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.289-294
  • Keywords: alkaptonuria, children, HGD gene, mutation, THERAPEUTIC TRIAL, INBORN-ERRORS, ASCORBIC-ACID, MURINE MODEL, HGO GENE, MUTATIONS, NITISINONE, METABOLISM
  • Hacettepe University Affiliated: Yes

Abstract

Background: Alkaptonuria (OMIM: 203500) is an inborn error of metabolism due to homogentisate 1,2-dioxygenase homogentisic acid 1,2 dioxygenase (HGD) enzyme deficiency. Due to the enzyme deficiency, homogentisic acid cannot be converted to maleylacetoacetate and it accumulates in body fluids. Increased homogentisic acid is converted to benzoquinones, the resulting benzoquinones are converted to melanin-like pigments, and these pigments are deposited in collagen - this process is called ochronosis. In patients with alkaptonuria, the urine is darkened, which is misinterpreted as hematuria, the incidences of renal stones, arthritis and cardiac valve calcification are increased, and spontaneous tendon ruptures, prostatitis and prostate stones can be encountered. The present study aimed to evaluate the HGD gene mutations in 14 patients with alkaptonuria.