Article
Neurologic nonmetabolic presentation of propionic acidemia.
Archives of neurology - 1 Sept 1999
Nyhan W L, Bay C, Beyer E W, Mazi M
Abstract excerpt
BACKGROUND: Patients with propionic acidemia usually present in the neonatal period with life-threatening ketoacidosis, often complicated by hyperammonemia. It was thought that the neurologic abnormalities seen in this disease were exclusively the consequences of these acute crises. Experience with 2 patients with propionic acidemia indicates that this disease may present first with prominent neurologic disease...
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