ORPHA:401948

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Also called CA-VA deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Childhood, Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:401948 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.