ORPHA:3222

Phosphoribosylpyrophosphate synthetase superactivity

Also called PRPP synthetase superactivity, PRPS1 superactivity

Body system

Inborn errors of metabolism

Inheritance pattern

X-linked recessive

Typical age of onset

Adolescent, Adult, Childhood, Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:3222 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.