D-2-hydroxyglutaric aciduria: case report and biochemical studies

J Inherit Metab Dis. 1980;3(1):11-5. doi: 10.1007/BF02312516.

Abstract

A patient with protein-losing gastroenteropathy and egg allergy has been shown to have a previously unrecognized organic aciduria, D-2-hydroxyglutaric aciduria. The observations made are consistent with an inherited metabolic disorder in the catabolism of 5-aminolaevulinate possibly due to deficient activity of a specific D-2-hydroxyglutarate dehydrogenase.

Publication types

  • Case Reports

MeSH terms

  • Aminolevulinic Acid / metabolism
  • Asthma / genetics*
  • Child, Preschool
  • Chromatography, Gas
  • Chromatography, Ion Exchange
  • Food Hypersensitivity / genetics*
  • Glutarates / urine*
  • Humans
  • Hydroxylysine / metabolism
  • Male
  • Metabolism, Inborn Errors / urine*
  • Protein-Losing Enteropathies / genetics*
  • Syndrome

Substances

  • Glutarates
  • Hydroxylysine
  • Aminolevulinic Acid