3-Hydroxy-3-methylglutaric aciduria: deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.
A marked deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase activity is present in cultured skin fibroblasts from a baby with 3-hydroxy-3-methylglutaric aciduria.
D003065:Coenzyme A; D005347:Fibroblasts / Q000201:enzymology; D005977:Glutarates / Q000652:urine*; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine*; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology*; D007652:Oxo-Acid-Lyases / Q000172:deficiency* / Q000378:metabolism
D005977:Glutarates; D006880:Hydroxy Acids; D006596:Hexosaminidases; D007652:Oxo-Acid-Lyases; D003065:Coenzyme A