U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Deficiency of hydroxymethylglutaryl-CoA lyase

Deficiency of hydroxymethylglutaryl-CoA lyase

Synonyms
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency; 3-hydroxy-3-methylglutaric aciduria; Defect in leucine metabolism; HMG CoA lyase deficiency; HMGCL DEFICIENCY; Hydroxymethylglutaric aciduria
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) is a rare autosomal recessive disorder with the cardinal manifestations of metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids. Urinary levels of 3-methylcrotonylglycine may be increased. Dicarboxylic aciduria, hepatomegaly, and hyperammonemia may also be observed. Presenting clinical signs include irritability, lethargy, coma, and vomiting (summary by Gibson et al., 1988). [from OMIM]

Available tests

96 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (96 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HL, HMGCL1, HMGCL
    Summary: 3-hydroxy-3-methylglutaryl-CoA lyase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-OH Acylcarnitine, Organic Acidemias, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 2022

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.