[Hyperuricemia as the main symptom of medium-chain acyl-Co-A dehydrogenase deficiency]

Klin Padiatr. 1997 Nov-Dec;209(6):357-60. doi: 10.1055/s-2008-1043975.
[Article in German]

Abstract

Between 1991 and 1996 three cases of MCAD-deficiency (medium-chain-acyl-Co-A dehydrogenase deficiency) were diagnosed in the Vestische Kinderklinik. All patients showed hypoketotic hypoglycaemia with hyperuricaemia. In the group of hypoketotic hypoglycaemia without lactat acidosis MCAD-deficiency is the only metabolic disease presenting regularly with hyperuricaemia. Thus, hyperuricaemia in a patient with hypoketotic hypoglycaemia is a strong indicator for MCAD-deficiency. Measurement of uric acid is easily available before sophisticated metabolic analysis are completed.

Publication types

  • English Abstract

MeSH terms

  • Acyl-CoA Dehydrogenase
  • Carrier Proteins / genetics
  • Child, Preschool
  • Diagnosis, Differential
  • Diazepam Binding Inhibitor
  • Fatty Acid Desaturases / deficiency*
  • Fatty Acid Desaturases / genetics
  • Female
  • Food Deprivation / physiology
  • Humans
  • Hypoglycemia / blood
  • Hypoglycemia / genetics
  • Infant
  • Ketone Bodies / blood
  • Male
  • Point Mutation
  • Uric Acid / blood*

Substances

  • Carrier Proteins
  • Diazepam Binding Inhibitor
  • Ketone Bodies
  • Uric Acid
  • Fatty Acid Desaturases
  • Acyl-CoA Dehydrogenase