ORPHA:353314

Pyruvate carboxylase deficiency, severe neonatal type

Also called Pyruvate carboxylase deficiency type B

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

Unknown (Worldwide)

Rarity class

Unknown

ORPHA:353314 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.