title: [The neonatal form of propionic acidemia].
abstract: A neonatal form of propionic acidemia is reported. Diagnosis was made by gas chromatography, mass spectrometry and urine excretion of 3-hydroxy-propionate and methylcitrate. Fibroblast cultures demonstrated an extremely low incorporation of C14-propionate, 6.5% range of normal values. Activity of propionyl-CoA-carboxylase was reduced. Intensive measures, including exchange-transfusion and ventilatory support, allowed life maintenance through neonatal period. Management of infant at three-month-old is based upon special diet with restriction of nocive amino acids, L-carnitine administration and infectious prophylaxis.
authors.affiliation: Departamento de Pediatría del Hospital Clínico y Facultad de Medicina, Universidad de Barcelona.
authors.forename: J
authors.initials: J
authors.lastname: Figueras Aloy
authors.forename: A
authors.initials: A
authors.lastname: Ribes Rubio
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca Busca
authors.forename: M
authors.initials: M
authors.lastname: Lluch Mir
authors.forename: P
authors.initials: P
authors.lastname: Brines Godino
authors.forename: R
authors.initials: R
authors.lastname: Jiménez González
authors.forename: M
authors.initials: M
authors.lastname: Cruz Hernández
mesh_terms: D000138:Acidosis / Q000097:blood*; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000235:genetics; D002265:Carboxylic Ester Hydrolases / Q000097:blood / Q000172:deficiency; D006801:Humans; D006943:Hyperglycemia / Q000097:blood; D007223:Infant; D007231:Infant, Newborn; D007662:Ketosis / Q000097:blood*; D008297:Male; D011422:Propionates / Q000097:blood*
chemical_list: D011422:Propionates; D002265:Carboxylic Ester Hydrolases
vernacular_title: Forma neonatal de acidemia propiónica.