3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL.

Source: Orphanet Journal of Rare Diseases - February 14, 2020 Category: Internal Medicine Authors: Sarah C. Gr ünert and Jörn Oliver Sass Tags: Research Source Type: research