Peer-Reviewed Publication
Mol Genet Metab Rep2025;45101278.December 1, 2025Case Reports
Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing.
Iskren Menkovic1, Neelam Makhijani2, Ludmila Francescatto3, Surekha Pendyal2, Christine Stanley4, Sarah P Young2,5, Dwight D Koeberl2, Dmitriy Niyazov2, Ashlee R Stiles2,5
1Department of Pathology and Laboratory Medicine, Children's National Hospital; George Washington University, Washington, DC, USA.
2Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
3Department of Pathology, Duke University Health System, Durham, NC, USA.
4Variantyx, Inc. 1671 Worcester Road, Suite 400, Framingham, MA, USA.
5Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
Abstract
3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is a rare autosomal recessive metabolic disease caused by variants in the HMGCL gene leading to an impairment in leucine catabolism and ketone synthesis. In the United States, HMG-CoA lyase deficiency is listed on the recommended uniform screening panel as a core condition for newborn screening. A positive newborn screen will typically show…
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