[Propionicacidemia. A report on two cases (author's transl)].
Two cases of propionicacidemia are reported. The first patient was a child aged 16 months with psychomotor retardation, severe disturbances of wakefulness, and vomiting; the second case concerned a new-born baby with metabolic acidosis and neurological disorders. In both cases the diagnosis of propionicacidemia was made after the discovery of ketonuria, and raised blood ammonia and glucose levels. Appropriate dietary measures led to great improvement in the first case, and nearly normal psychomotor development in the second case at 7 months of age. Problems related to biotin sensitivity, leucine intolerance, and raised blood ammonia levels are discussed.
D000641:Ammonia / Q000097:blood; D001710:Biotin / Q000494:pharmacology; D002262:Carboxy-Lyases / Q000172:deficiency; D005998:Glycine / Q000097:blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007930:Leucine / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis / Q000178:diet therapy; D009461:Neurologic Manifestations; D011422:Propionates / Q000097:blood*
D011422:Propionates; D001710:Biotin; D000641:Ammonia; D002262:Carboxy-Lyases; D007930:Leucine; D005998:Glycine
Acidémie propionique. A propos de deux observations.