Neurologic nonmetabolic presentation of propionic acidemia.

摘要: Background Patients with propionic acidemia usually present in the neonatal period life-threatening ketoacidosis, often complicated by hyperammonemia. It was thought that neurologic abnormalities seen this disease were exclusively consequences of these acute crises. Experience 2 patients indicates may first prominent without episodes ketoacidosis serve as alerting signals for a diagnosis an organic acidemia. Objective To examine clinical and metabolic aspects phenotype suggested basal ganglia. Design Examination patterns acids urine enzyme assay propionyl-CoA carboxylase fibroblasts lymphocytes. Setting Referral population to biochemical genetics laboratory. Two whose features hypotonia followed spastic quadriparesis choreoathetosis. Both had seizures. One patient mildly mentally retarded but grew normally physically. The other profound mental retardation failure thrive; he also self-mutilated his lower lip. Self-injurious behavior has not been reported disease. Main Outcome Measures Clinical description, blood ammonia levels, acid levels urine, activity. Results Excretion metabolites, including methylcitrate, typical. Residual activity approximated 5% control each patient. Conclusions Propionic can pure massive ketoacidosis. Hyperammonemia occur after infancy some patients, presenting Reye syndrome.