Orphanet: Pyruvate carboxylase deficiency, infantile type

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Pyruvate carboxylase deficiency, infantile type

Disease definition

Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.


Classification level: Subtype of disorder
  • Synonym(s):
    • Pyruvate carboxylase deficiency type A
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E74.4
  • OMIM: 266150
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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