[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.