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Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus
R Heidenreich1, M Natowicz, B E Hainline
1Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia.
Abstract:
We report four patients with methylmalonic acidemia who developed acute extrapyramidal disease after metabolic decompensation. The neurologic findings resulted from bilateral destruction of the globus pallidus with variable involvement of the internal capsules. This complication was unrelated to a specific gene defect responsible for methylmalonic acidemia or to cyanocobalamin administration. These lesions constitute a "metabolic stroke," probably because of the accumulation of toxic organic acid metabolites, because they cannot be accounted for by hypoxemia or vascular insufficiency.
Insights
Four patients with methylmalonic acidemia experienced acute extrapyramidal disease following metabolic decompensation. This neurological complication, termed "metabolic stroke," stemmed from globus pallidus destruction due to toxic metabolite accumulation.
Area of Science:
- Neurology
- Metabolic Disorders
- Neuroscience
Background:
- Methylmalonic acidemia is an inherited metabolic disorder.
- Metabolic decompensation can lead to severe health complications.
Observation:
- Four patients with methylmalonic acidemia presented with acute extrapyramidal disease.
- Neurological findings included bilateral globus pallidus destruction.
Findings:
- The observed neurological damage was characterized as a "metabolic stroke."
- Lesions resulted from toxic organic acid metabolite accumulation, not hypoxemia or vascular issues.
- The complication was independent of specific gene defects or cyanocobalamin treatment.
Implications:
- Highlights a distinct neurological complication of methylmalonic acidemia.
- Suggests a mechanism of "metabolic stroke" in organic acidemias.
- Informs understanding of neurological damage in metabolic disorders.