title: A case of organic aciduria--suspected 3-hydroxy-3-methylglutaric aciduria.
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.
authors.affiliation: Department of Metabolic Diseases, Child Health Centre, Warszawa, Poland.
authors.forename: H
authors.initials: H
authors.lastname: Kulczycka
authors.forename: Z
authors.initials: Z
authors.lastname: Mielniczuk
authors.forename: H
authors.initials: H
authors.lastname: Kamińska
authors.forename: W
authors.initials: W
authors.lastname: Lewanowicz
authors.forename: E
authors.initials: E
authors.lastname: Pronicka
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy; D004044:Dietary Proteins / Q000627:therapeutic use; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007930:Leucine / Q000378:metabolism*; D015093:Meglutol / Q000652:urine*
chemical_list: D004044:Dietary Proteins; D015093:Meglutol; D007930:Leucine