[Ketotic hiperglycinemia: one case of possible propionic acidemia (author's transl)].
Authors present the first case to be observed in Spain of neonatal propionic acidemia. The subject is a newborn with symtoms free interval, family consanquinity and siblings who have died prematurely with a similar picture of hyperventilation "sine materiae", progressive metabolic acidosis without anionic discrepancy and terminal coma. The possibility that it might be a question of other metabolopathies is under discussion, but bio-chemical examination, with discovery of large quantities of propionic acid in urine (51 mcg./ml.) and concentrations of aminoacids in plasma, strongly suggest the diagnosis of a new case of neonatal propionic acidemia.
D000596:Amino Acids / Q000032:analysis; D016883:Diabetic Ketoacidosis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000235:genetics*; D007532:Isoleucine; D008297:Male; D010375:Pedigree; D011422:Propionates / Q000097:blood / Q000652:urine*
D000596:Amino Acids; D011422:Propionates; D007532:Isoleucine
A propósito de un caso de hiperglicinemia cetósica (probable acidemia propiónica).