Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case

Acta Paediatr Taiwan. 2004 Jul-Aug;45(4):236-8.


Isovaleric acidemia (IVA), a recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase deficiency. Isovaleric acidemia may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting and altered mental status. This report concerns a 2-month-old female infant diagnosed as isovaleric acidemia by tandem mass spectrometry. She presented with two episodes of vomiting, poor activity and pancytopenia without obvious metabolic acidosis and hyperammonemia. She received combined therapy of L-carnitine, glycine and low protein and leucine diet. Hemogram and serum isovalerylcarnitine (IVC) were measured during the treatment. The depressed leukocyte and platelets recovered when serum isovalerylcarnitine level increased.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Carnitine / therapeutic use
  • Diet, Protein-Restricted
  • Female
  • Glycine / therapeutic use
  • Hemiterpenes
  • Humans
  • Infant
  • Isovaleryl-CoA Dehydrogenase
  • Mass Spectrometry / methods
  • Oxidoreductases Acting on CH-CH Group Donors / deficiency
  • Oxidoreductases Acting on CH-CH Group Donors / metabolism
  • Pentanoic Acids / blood*
  • Pentanoic Acids / metabolism
  • Treatment Outcome


  • Hemiterpenes
  • Pentanoic Acids
  • isovaleric acid
  • Oxidoreductases Acting on CH-CH Group Donors
  • Isovaleryl-CoA Dehydrogenase
  • Carnitine
  • Glycine