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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

101 tests are in the database for this condition.

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Clinical tests (101 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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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

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