dihydropyrimidine dehydrogenase deficiency

info · Genetic

A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.

Signs and symptoms

Hypertonia
Reduced dihydropyrimidine dehydrogenase level
Hypotonia
Motor delay
Uraciluria
Elevated urinary dihydrothymine level
Failure to thrive
Nystagmus
Hyperactivity
Cerebral atrophy

Also known as: Dihydrouracil Dehydrogenase deficiency; familial pyrimidinaemia; thymine-uracilurea