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Neurologic outcome of propionic acidemia
R A Surtees1, E E Matthews, J V Leonard
1Medical Unit, Institute of Child Health, London, England.
Insights
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.
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.
Abstract:
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.