ORPHA:411543

Severe phosphoribosylpyrophosphate synthetase superactivity

Also called Severe PRPP synthetase superactivity, Severe PRPS1 superactivity

Body system

Inborn errors of metabolism

Inheritance pattern

X-linked recessive

Typical age of onset

Childhood, Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:411543 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.