3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces | Orphanet Journal of Rare Diseases | Full Text

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces | Orphanet Journal of Rare Diseases | Full Text

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.

Authors:Sarah C. Grünert and Jörn Oliver Sass

Citation:Orphanet Journal of Rare Diseases 2020 15:48

Content type:Research

Published on: 14 February 2020

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