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3-hydroxy-3-methylglutaric aciduria

Go to external page http://www.orpha.net/ORDO/Orphanet_20


A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.

Synonyms: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMG-CoA lyase deficiency Hydroxymethylglutaric aciduria

This is just here as a test because I lose it

Term information

database cross reference
  • ICD-10:E71.1 (Attributed (The ICD10 code is attributed by Orphanet))
  • UMLS:C0268601 (E (Exact mapping: the two concepts are equivalent))
  • UMLS:C1533587 (E (Exact mapping: the two concepts are equivalent))
  • ICD-10:E71.1 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
  • OMIM:246450 (E (Exact mapping: the two concepts are equivalent))
hasDbXref

UMLS:C1533587

OMIM:246450

ICD-10:E71.1

UMLS:C0268601

notation

ORPHA:20