[The neonatal form of propionic acidemia].
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.
Figueras Aloy
J
J
Departamento de Pediatría del Hospital Clínico y Facultad de Medicina, Universidad de Barcelona.
Ribes Rubio
A
A
Vilaseca Busca
M A
MA
Lluch Mir
M
M
Brines Godino
P
P
Jiménez González
R
R
Cruz Hernández
M
M
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*
D011422:Propionates; D002265:Carboxylic Ester Hydrolases
Forma neonatal de acidemia propiónica.