Alkaptonuria caused by compound heterozygote mutations

Genet Couns. 2003;14(2):207-13.

Abstract

Alkaptonuria is a rare autosomal recessive disorder of inborn errors of metabolism. It is characterised by the deposition of "ochronotic pigment" especially in connective tissue as a result of deficieny of the "homogentisic acid oxidase" enzyme which has a role in the catabolism of tyrosine and phenylalanine. A compound heterozygote alkaptonuria patient, with manifestations in adulthood, without infantile and childhood signs is presented. The described alkaptonuria mutations are reported for the first time in the Turkish population.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alkaptonuria / genetics*
  • Alkaptonuria / metabolism
  • Biopsy
  • Exons
  • Face
  • Heterozygote*
  • Homogentisic Acid / metabolism
  • Humans
  • Male
  • Ochronosis / genetics
  • Ochronosis / metabolism
  • Point Mutation / genetics*
  • Radiography
  • Skin / pathology
  • Spinal Osteophytosis / diagnostic imaging
  • Spinal Osteophytosis / genetics

Substances

  • Homogentisic Acid