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GTR Home > Conditions/Phenotypes > 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Synonyms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency; HMG-CoA synthase-2 deficiency; HMGCS2 DEFICIENCY; MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY; mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mitochondrial HMG-CoA synthase deficiency (HMGCS2D) is an inherited metabolic disorder caused by a defect in the enzyme that regulates the formation of ketone bodies. Patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting (summary by Aledo et al., 2006). [from OMIM]

Available tests

43 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , HMGCS2
    Summary: 3-hydroxy-3-methylglutaryl-CoA synthase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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