3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.
Choreoathetosis, spastic parapareses, dementia and optic atrophy were the main clinical features in a sibship with progressive encephalopathy of late onset. The urine contained constantly elevated amounts of 3-methylglutaric and 3-methylglutaconic acids. The identity of these metabolites was confirmed by synthesis and mass spectrometry. On leucine loading, the excretion of the metabolites was elevated.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D001264:Athetosis / Q000209:etiology; D001928:Brain Diseases, Metabolic / Q000209:etiology*; D002648:Child; D002819:Chorea / Q000209:etiology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007930:Leucine / Q000378:metabolism*; D008297:Male; D009128:Muscle Spasticity / Q000209:etiology; D009896:Optic Atrophy / Q000209:etiology
D007930:Leucine