dihydropyrimidinase deficiency

Pathology

• congenital microvillous atrophy

Genetics

• autosomal recessive
• associated with defects in DPYS

Clinical manifestations

• variable clinical phenotype
• epilepsy
• dysmorphic features
• severe developmental delay

Laboratory

• dihydropyrimidine in urine: dihydropyrimidinuria

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/222748