Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?

摘要: We describe a boy of consanguineous parents who suffered from intractable diarrhoea due to congenital microvillous atrophy, recessively inherited autosomal disorder. He developed severe cholestatis starting at 2 weeks age and leading liver cirrhosis. His psychomotor development appeared only slightly delayed. At the 7 months he died septicaemia. In addition disturbances electrolyte balance renal tubular function, which could be attributed marked elevations dihydrouracil dihydrothymine as well moderately elevated excretion uracil thymine in urine were repeatedly demonstrated, suggesting disorder pyrimidine degradation. An enzymatic defect 5,6-dihydropyrimidine amidohydrolase (EC 3.5.2.2, dihydropyrimidinase, DHP) was demonstrated biopsy. As both these recessive disorders seem extremely rare, it remains speculative, whether two independently metabolic diseases or this represents hitherto undescribed contiguous gene syndrome.