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A case of organic aciduria--suspected 3-hydroxy-3-methylglutaric aciduria
H Kulczycka1, Z Mielniczuk, H Kamińska
1Department of Metabolic Diseases, Child Health Centre, Warszawa, Poland.
Materia Medica Polona. Polish Journal of Medicine and Pharmacy
|October 1, 1991
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.