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Neurologic nonmetabolic presentation of propionic acidemia
1Department of Pediatrics, University of California, San Diego 92093-0830, USA.
Archives of Neurology
|September 17, 1999
Summary
Propionic acidemia can present with severe neurological symptoms before ketoacidosis. This organic acidemia may manifest initially as a primary neurological disorder.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Propionic acidemia typically presents with ketoacidosis and hyperammonemia in neonates.
- Neurologic abnormalities were previously thought to result solely from acute metabolic crises.
Observation:
- Two patients presented with prominent neurological disease, including hypotonia, spastic quadriparesis, choreoathetosis, and seizures, without severe ketoacidosis.
- One patient exhibited self-injurious behavior, a previously unreported manifestation.
Findings:
- Enzyme assays revealed residual propionyl-CoA carboxylase activity of approximately 5% in both patients.
- Typical organic acid metabolites, including methylcitrate, were detected in urine.
Implications:
- Propionic acidemia should be considered in cases of unexplained neurological disease, even without typical metabolic crisis symptoms.
- Hyperammonemia can present later in infancy, mimicking Reye syndrome, in some propionic acidemia patients.