A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome

J Inherit Metab Dis. 1984;7(2):62-4. doi: 10.1007/BF01805804.

Abstract

A new patient with medium-chain dicarboxylic aciduria and suberyl glycinuria during an attack of acute illness is reported. When, inadvertently he was given medium-chain triglycerides for 2 days, the excretion of abnormal metabolites of medium-chain fatty acids increased and hepatomegaly became more pronounced. During remission a low excretion of the metabolites were observed. After 16 h of fasting hypoglycaemia was accompanied by an increase of urinary dicarboxylic acids and psi-hydroxyacids similar to that found on admission. Interestingly this urinary organic acid pattern persisted 8 h after intravenous administration of glucose. In a blood sample obtained after 16 h of fasting there was hypoketonaemia and increased levels of total free fatty acids, octanoic, decanoic and cis-4-decenoic acids. These biochemical data suggest the existence of a deficiency at the level of medium-chain acyl-CoA dehydrogenase.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenases / deficiency*
  • Blood Glucose / metabolism
  • Caprylates*
  • Child, Preschool
  • Dicarboxylic Acids / urine*
  • Dietary Fats / administration & dosage
  • Fasting
  • Glycine / urine
  • Humans
  • Hydroxy Acids / urine
  • Hypoglycemia / etiology
  • Male
  • Reye Syndrome / etiology*

Substances

  • Blood Glucose
  • Caprylates
  • Dicarboxylic Acids
  • Dietary Fats
  • Hydroxy Acids
  • suberic acid
  • Acyl-CoA Dehydrogenases
  • Glycine