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 pr...

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Bibliographic Details
Published in:	Anales españoles de pediatría Vol. 29; no. 6; p. 459
Main Authors:	Figueras Aloy, J, Ribes Rubio, A, Vilaseca Busca, M A, Lluch Mir, M, Brines Godino, P, Jiménez González, R, Cruz Hernández, M
Format:	Journal Article
Language:	Spanish
Published:	Spain 01-12-1988
Subjects:	Acidosis - blood Amino Acid Metabolism, Inborn Errors - blood Amino Acid Metabolism, Inborn Errors - genetics Carboxylic Ester Hydrolases - blood Carboxylic Ester Hydrolases - deficiency Humans Hyperglycemia - blood Infant Infant, Newborn Ketosis - blood Male Propionates - blood
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Summary:	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.
ISSN:	0302-4342