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  • Molecular assay reagents intended to identify mutations in the 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria) (HMGCL) gene, located at chromosome 1p36.1-p35, which produces an enzyme found in the mitochondria that is involved in breaking down dietary fat and proteins. Mutations at this locus have been identified in patients with early-onset infantile hydroxymethylglutaric aciduria coenzyme A (HMG-CoA) lyase deficiency and Reye\'s syndrome.
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