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  • Title: [The neonatal form of propionic acidemia].
    Author: Figueras Aloy J, Ribes Rubio A, Vilaseca Busca MA, Lluch Mir M, Brines Godino P, Jiménez González R, Cruz Hernández M.
    Journal: An Esp Pediatr; 1988 Dec; 29(6):459-62. PubMed ID: 3245641.
    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.
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