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| Term | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | ID (Ontology) | DOID:0070541 (Human Disease) |
| 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. | ||
| Also Known As | "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency" ; "HMG-CoA lyase deficiency" ; "HMGCL deficiency" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease____ inherited metabolic disorder | |__amino acid metabolic disorder__| 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 1 rec. |
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autosomal recessive disease amino acid metabolic disorder |
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External Crossreferences & Linkouts
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GARD:8387 MESH:C538324 MIM:246450 NCI:C84523 ORDO:20 UMLS_CUI:C0268601 |
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