A rare mutation in alkaptonuria patient

Authors

  • Ansh Agarwal
  • Kashish Goyal
  • Priyanshu Mathur
  • Priyanka Minocha
  • Kanika Bansal
  • Nitish Mathur

DOI:

https://doi.org/10.32677/IJCH.2020.v07.i03.011

Keywords:

Alkaptonuria, Homogentisate 1, 2-dioxygenase gene, 2-dioxygenase, Homogentisic Acid

Abstract

Alkaptonuria is a rare autosomal recessive metabolic disorder due to mutation in enzyme homogentisate 1,2-dioxygenase resulting in accumulation of homogentisic acid. The homogentisate 1,2-dioxygenase (HGD) gene has been mapped to chromosome 3q21- q23 and comprises 14 exons. A wide variety of causative mutations has been reported. Here, we are presenting a case report of a 2-year-old male child with a history of dark black-brown spots of urine on diaper with c.674G>C (p.Arg225Pro) mutation at exon 10 of HGD gene. The observed variant had a minor allele frequency of 0.0200% and 0.0004% in 1000 genomes and gnomAD database, respectively.

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Published

2020-03-27

Issue

Section

Case Reports

How to Cite

A rare mutation in alkaptonuria patient. (2020). Indian Journal of Child Health, 7(3), 137-139. https://doi.org/10.32677/IJCH.2020.v07.i03.011