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Mater Med Pol ; 23(4): 312-4, 1991.
Article in English | MEDLINE | ID: mdl-1726825

ABSTRACT

In a girl from a family with muscular hypotonia, hypoglycaemia, lactic acidosis and delayed development the analysis of organic acids in urine suggested a defect in leucine metabolism--3-hydroxy-3-methylglutaric aciduria. A good therapeutic effect was obtained with low-protein diet.


Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Leucine/metabolism , Meglutol/urine , Amino Acid Metabolism, Inborn Errors/diet therapy , Dietary Proteins/therapeutic use , Female , Gas Chromatography-Mass Spectrometry , Humans
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