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3-hydroxy-3-methylglutaricaciduria 1. an autosomal recessive aminoacidopathy characterized by excessive urinary excretion of 3-hydroxy-3-methylglutaric, 3-methylglutaconic, and related organic acids. Most cases are due to deficiency of hydroxymethylglutaryl-CoA lyase, are of neonatal or infantile onset, and are clinically similar to Reye's syndrome, with vomiting, lethargy, hypotonia, coma, nonketotic acidosis, hypoglycemia, and hyperammonemia.  2. urinary excretion of excess 3-hydroxy-3-methylglutaric acid. Written also β-hydroxy-β-methylglutaricaciduria.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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