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Pyruvate carboxylase deficiency

Disease definition

Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.

ORPHA:3008

  • Synonym(s):
    • Ataxia with lactic acidosis type 2
    • Ataxia with lactic acidosis type II
    • Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
    • Leigh syndrome due to PC deficiency
    • Leigh syndrome due to pyruvate carboxylase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.4
  • OMIM: 266150
  • UMLS: C0034341  C2931141
  • MeSH: D015324
  • GARD: 7512
  • MedDRA: -

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