Orphanet: Pyruvate carboxylase deficiency

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.


Classification level: Disorder
  • 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: -

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.