ORPHA:976

Adenine phosphoribosyltransferase deficiency

Also called 2,8-dihydroxyadenine urolithiasis, APRT deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Adolescent, Adult, Childhood, Elderly, Infancy

Estimated prevalence

1-9 / 100 000 (Europe)

Rarity class

1-9 / 100 000

ORPHA:976 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.