A case of organic aciduria--suspected 3-hydroxy-3-methylglutaric aciduria.
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.
Kulczycka
H
H
Department of Metabolic Diseases, Child Health Centre, Warszawa, Poland.
Mielniczuk
Z
Z
Kamińska
H
H
Lewanowicz
W
W
Pronicka
E
E
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*
D004044:Dietary Proteins; D015093:Meglutol; D007930:Leucine