An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis

Eur J Pediatr. 1998 Jan;157(1):50-2. doi: 10.1007/s004310050765.


We report a 5-year-old boy with propionic acidaemia who developed a rapidly fatal necrosis of the basal ganglia after an episode of clinical deterioration. Neither metabolic acidosis nor hyperammonaemia were present. Organic acid analysis in both urine and CSF showed increased levels of methylcitric and 3-hydroxypropionic acids. Propionic acidaemia was confirmed by demonstrating a propionyl-CoA carboxylase deficiency (11% of control value) in skin fibroblasts. DNA analysis revealed that the patient was a compound heterozygote for two mutations in the PCCB gene.

Conclusion: Propionic acidaemia can present as a sudden and fatal neurological disease and not only as an organic aciduria with severe biochemical dis-turbances and progressive neurological deterioration.

Publication types

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

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Basal Ganglia / pathology*
  • Basal Ganglia Diseases / diagnosis*
  • Basal Ganglia Diseases / etiology
  • Carboxy-Lyases / deficiency
  • Child, Preschool
  • Disease Progression
  • Fatal Outcome
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Methylmalonyl-CoA Decarboxylase
  • Mutation
  • Necrosis
  • Propionates / blood
  • Propionates / metabolism*


  • Propionates
  • Carboxy-Lyases
  • Methylmalonyl-CoA Decarboxylase
  • propionic acid