3-hydroxy-3-methylglutaricaciduria
- 3-hydroxy-3-methylglutaricaciduria
- 3-hy·droxy-3-meth·yl·glu·tar·ic·ac·id·uria (hi-drok″sĭ-meth″əl-gloo-tar″ik-as″ə-duґre-ə) an autosomal recessive aminoacidopathy caused by mutation in the HMGCL gene (locus: 1pter-p33), which encodes hydroxymethylglutaryl-CoA lyase. The resulting enzyme deficiency is characterized by excessive urinary excretion of 3-hydroxy-3-methylglutaric, 3-methylglutaconic, and related organic acids. Onset is in the neonatal or infantile period. It resembles Reye syndrome clinically, with vomiting, lethargy, hypotonia, coma, nonketotic acidosis, hypoglycemia, and hyperammonemia.
Medical dictionary.
2011.
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3-hydroxy-3-methylglutaric acid — 3 hy·droxy 3 meth·yl·glu·tar·ic ac·id (hi drok″sĭ meth″əl gloo tarґik) a dicarboxylic acid occurring at elevated levels in the urine in 3 hydroxy 3 methylglutaricaciduria … Medical dictionary
hydroxymethylglutaryl-CoA lyase — hy·droxy·meth·yl·glu·ta·ryl CoA ly·ase (hi drok″se meth″əl glooґtə rəl ko aґ liґās) [EC 4.1.3.4] an enzyme of the lyase class that catalyzes the cleavage of 3 hydroxy 3 methylglutaryl CoA to form acetyl coenzyme A… … Medical dictionary
3-methylglutaconic acid — 3 meth·yl·glu·ta·con·ic ac·id (meth″əl gloo″tə konґik) a dicarboxylic acid occurring at elevated levels in 3 methylglutaconicaciduria and 3 hydroxy 3 methylglutaricaciduria … Medical dictionary
3-methylglutaric acid — 3 meth·yl·glu·tar·ic ac·id (meth″əl gloo tarґik) a dicarboxylic acid occurring at elevated levels in the urine in one form of 3 methylglutaconicaciduria and in 3 hydroxy 3 methylglutaricaciduria … Medical dictionary
