ORPHA:46

Adenylosuccinate lyase deficiency

Also called ADSL deficiency, Adenylosuccinase 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:46 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.