DIHYDROPYRIDMIDINASE DEFICIENCY AND CONGENITAL MICROVILLOUS ATROPHY -COINCIDENCE OR GENETIC RELATION

We describe a boy of consanguineous parents who suffered from intracta ble diarrhoea due to congenital microvillous atrophy, a recessively in herited autosomal disorder. He developed severe cholestatis starting a t 2 weeks of age and leading to liver cirrhosis. His psychomotor devel opment appeared only slightly delayed. At the age of 7 months he died due to septicaemia. In addition to disturbances of electrolyte balance and renal tubular function, which could be attributed to microvillous atrophy, marked elevations of dihydrouracil and dihydrothymine as wel l as moderately elevated excretion of uracil and thymine in urine were repeatedly demonstrated, suggesting a disorder of pyrimidine degradat ion. An enzymatic defect of 5,6-dihydropyrimidine amidohydrolase (EC 3 .5.2.2, dihydropyrimidinase, DHP) was demonstrated in liver biopsy. As both of these recessive disorders seem to be extremely rare, it remai ns speculative, whether he suffered from two independently inherited m etabolic diseases or whether this represents a hitherto undescribed co ntiguous gene syndrome.