ORPHA:70594

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Also called Autosomal recessive sepiapterin reductase-deficient DRD, DRD due to SRD, SPR deficiency, Sepiapterin reductase deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:70594 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.