Lessons from the late diagnosis of isovaleric acidemia in a five-year-old boy

J Pediatr. 1996 Aug;129(2):309-10. doi: 10.1016/s0022-3476(96)70261-5.

Abstract

Chronic, intermittent isovaleric acidemia was undiagnosed in a boy with an increased anion gap metabolic acidosis until the boy was 5 years of age. This case emphasizes the importance of maintaining a high index of suspicion for inborn errors of metabolism in patients with metabolic acidosis, even in late childhood.

Publication types

  • Case Reports

MeSH terms

  • Acid-Base Equilibrium
  • Acidosis / blood
  • Acidosis / diagnosis
  • Acidosis / drug therapy
  • Child, Preschool
  • Gas Chromatography-Mass Spectrometry
  • Hemiterpenes
  • Humans
  • Male
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / drug therapy
  • Pentanoic Acids / blood*
  • Sodium Bicarbonate / administration & dosage
  • Sodium Bicarbonate / therapeutic use

Substances

  • Hemiterpenes
  • Pentanoic Acids
  • isovaleric acid
  • Sodium Bicarbonate