Propionic acidemia without acidemia: a case report.
Propionic acidemia is a recessively inherited disorder of organic acid metabolism characterized by a spectrum of clinical and biochemical findings. Metabolic acidosis is a key feature of this disease and is useful in differentiating it from nonketotic hyperglycinemia. This case report is presented because significant metabolic acidosis was not a prominent or persistent finding in this patient.
Ramachandran
R
R
Children's Medical Center, Dayton, OH 45404-1815, USA.
Pietz
J
J
D000138:Acidosis / Q000175:diagnosis; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011422:Propionates / Q000097:blood*
D011422:Propionates; C029658:propionic acid