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2-hydroxyglutaric aciduria

Disease definition

2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.

ORPHA:19

  • Synonym(s):
    • 2-hydroxyglutaric acidemia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E72.8
  • OMIM: -
  • UMLS: C2746066
  • MeSH: -
  • GARD: 10761
  • MedDRA: -

Additional information

Specialised Social Services

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