Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency

Clin Chim Acta. 1983 Sep 30;133(2):133-40. doi: 10.1016/0009-8981(83)90398-4.


Using gas chromatography-mass spectrometry (GC/MS), urinary organic acid profile studies were carried out on a patient with dihydrolipoyl dehydrogenase (E3) deficiency. Elevated levels of 2-hydroxyglutaric acid, 2-hydroxyisocaproic acid and 2-oxoisocaproic acid were observed in addition to lactic acid, 2-oxoglutaric acid, 2-hydroxyisovaleric acid and 2-hydroxybutyric acid previously described in patients with E3 deficiency. The 2-oxoglutaric acid levels were significantly lowered after branched-chain amino acid restriction. In an acute period, the patient was slightly ketoacidotic and excreted larger amounts of 2-oxoglutaric acid and lactic acid than in a static period. It was shown that, prior to confirmatory enzyme studies, patients with E3 deficiency who were suspected to have atypical maple syrup urine disease or chronic lactic acidosis can be rapidly identified by GC/MS analysis of urinary acids.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Caproates / urine
  • Carboxylic Acids / urine*
  • Dihydrolipoamide Dehydrogenase / deficiency*
  • Gas Chromatography-Mass Spectrometry
  • Glutarates / urine
  • Humans
  • Hydroxybutyrates / urine
  • Infant
  • Keto Acids / urine
  • Ketoglutaric Acids / urine
  • Lactates / urine
  • Lactic Acid
  • Male
  • Valerates / urine


  • Caproates
  • Carboxylic Acids
  • Glutarates
  • Hydroxybutyrates
  • Keto Acids
  • Ketoglutaric Acids
  • Lactates
  • Valerates
  • 2-hydroxyisovaleric acid
  • alpha-hydroxyglutarate
  • Lactic Acid
  • alpha-hydroxyisocaproic acid
  • alpha-ketoisocaproic acid
  • Dihydrolipoamide Dehydrogenase
  • 2-hydroxybutyric acid