ORPHA:206428

Hypoxanthine-guanine phosphoribosyltransferase deficiency

Also called HPRT deficiency, HPRT1 deficiency, Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

X-linked recessive

Typical age of onset

Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal

Estimated prevalence

Unknown (Worldwide)

Rarity class

Unknown

ORPHA:206428 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.