3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.
Gunay-Aygun
Meral
M
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. mgaygun@mail.nih.gov
D000015:Abnormalities, Multiple / Q000378:metabolism*; D000105:Acetyl Coenzyme A / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D005977:Glutarates / Q000378:metabolism*; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency* / Q000652:urine; D007930:Leucine / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000378:metabolism*; D013261:Sterols / Q000096:biosynthesis
D005977:Glutarates; D013261:Sterols; C022034:3-methylglutaconic acid; D000105:Acetyl Coenzyme A; D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase; D007930:Leucine