[Ketotic hiperglycinemia: one case of possible propionic acidemia (author's transl)].

Abstract

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.

• Authors: S Sanz, R Laplana, P Sanjurjo, A Vallo, J R Soriano
• Journal: Anales espanoles de pediatria (An Esp Pediatr) Vol. 11 Issue 1 Pg. 73-80 (Jan 1978) ISSN: 0302-4342 [Print] Spain
• Vernacular Title: A propósito de un caso de hiperglicinemia cetósica (probable acidemia propiónica).
• PMID: 418714 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Amino Acids
• Propionates
• Isoleucine

Topics

• Amino Acids (analysis)
• Diabetic Ketoacidosis (diagnosis, genetics)
• Humans
• Infant, Newborn
• Infant, Newborn, Diseases (diagnosis, genetics)
• Isoleucine
• Male
• Pedigree
• Propionates (blood, urine)