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Pyruvate carboxylase deficiency, severe neonatal type

Disease definition

Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.

ORPHA:353314

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

Detailed information

Professionals

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