Neurologic outcome of propionic acidemia

Pediatr Neurol. Sep-Oct 1992;8(5):333-7. doi: 10.1016/0887-8994(92)90085-d.


Twenty patients with propionic acidemia were reviewed retrospectively. Two groups were identified: those who presented in the first week of life (11 patients) or after the neonatal period (9 patients). The early onset of disease had a much higher death rate (hazard ratio: 7.52) and all patients in this group were mentally retarded (IQ < or = 60). Movement disorder was common in both groups. Of the early-onset group, 3 patients had mild chorea or dystonia. Four in the late-onset group had a severe movement disorder. In the late onset group, cranial computed tomography disclosed transient basal ganglia lucencies following an episode of metabolic decompensation; however, no disturbance in amine neurotransmitter metabolite concentrations were found in the cerebrospinal fluid.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / mortality
  • Biotin / administration & dosage
  • Carboxy-Lyases / deficiency
  • Child
  • Child, Preschool
  • Dietary Proteins / administration & dosage
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant, Newborn
  • Methylmalonyl-CoA Decarboxylase
  • Neurologic Examination*
  • Propionates / blood*
  • Retrospective Studies
  • Survival Analysis
  • Survival Rate


  • Dietary Proteins
  • Propionates
  • Biotin
  • Carboxy-Lyases
  • Methylmalonyl-CoA Decarboxylase
  • propionic acid