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Related Experiment Videos

Neurologic outcome of propionic acidemia.

R A Surtees1, E E Matthews, J V Leonard

  • 1Medical Unit, Institute of Child Health, London, England.

Pediatric Neurology
|September 1, 1992
PubMed
Summary

Early-onset propionic acidemia significantly increases mortality and intellectual disability risk. Late-onset propionic acidemia presents with severe movement disorders and transient basal ganglia abnormalities, but normal neurotransmitter levels.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Propionic acidemia is an inherited metabolic disorder affecting amino acid metabolism.
  • The clinical presentation and outcomes can vary significantly based on disease onset.

Purpose of the Study:

  • To retrospectively analyze the clinical course and outcomes of propionic acidemia patients.
  • To compare outcomes between early-onset (first week of life) and late-onset (after neonatal period) propionic acidemia.

Main Methods:

  • Retrospective review of 20 patients diagnosed with propionic acidemia.
  • Patients were categorized into two groups based on age at presentation: early-onset and late-onset.
  • Clinical data, including mortality, neurological status (IQ), movement disorders, and neuroimaging, were analyzed.

Main Results:

  • Early-onset propionic acidemia (11 patients) had a significantly higher death rate (hazard ratio: 7.52) compared to late-onset (9 patients).
  • All patients in the early-onset group exhibited intellectual disability (IQ ≤ 60).
  • Movement disorders were prevalent in both groups; severe movement disorders were more common in the late-onset group, associated with transient basal ganglia lucencies on CT scans, but normal cerebrospinal fluid amine neurotransmitter metabolites.

Conclusions:

  • Early-onset propionic acidemia is associated with severe outcomes, including high mortality and intellectual disability.
  • Late-onset propionic acidemia can manifest with significant movement disorders and transient neuroimaging abnormalities.
  • Neurotransmitter metabolite levels in CSF do not appear to be disturbed in late-onset propionic acidemia following metabolic decompensation.

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