DIHYDROPYRIMIDINASE DEFICIENCY, A PROGRESSIVE NEUROLOGICAL DISORDER

A case of a child presenting with congenital abnormalities at birth is reported. The early development remained severely retarded and acquir ed skills minimally, The head circumference centile decreased, Magneti c resonance imaging showed progressive neuronal atrophy and secondary delay in myelination. Dihydropyrimidine concentrations in body fluids were quantitated by NMR spectroscopy. Enzymatic assay in the liver bio psy revealed total deficiency of dihydropyrimidinase (DHP) (5,6-dihydr opyrimidine amidohydrolase; Ef 3.5.2.2), As such, the patient is the f irst with enzymatically proven DHP deficiency, Thus far dihydropyrimid inuria has been reported in three other patients with a variety of neu rological abnormalities, A relation of the enzyme deficiency with the neurodegenerative clinical course in our patient is suggested.