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MIRAGE
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Summary
- Synonym
-
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
- HMG-CoA lyase deficiency
- HMGCL deficiency
- HMGCLD
- hydroxymethylglutaric aciduria
- Definition
- An amino acid metabolic disorder characterized by 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 that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:0070541
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
