Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation ?
| Autor: | C. Brautigam, H. W. Seyberth, A.B.P. van Kuilenburg, Birgit Assmann, Ron A. Wevers, Georg F. Hoffmann, Marinus Duran, L. Wagner, A. H. van Gennip |
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| Přispěvatelé: | Other departments, Faculteit der Geneeskunde |
| Rok vydání: | 1997 |
| Předmět: |
Diarrhea
Male medicine.medical_specialty Cirrhosis Biology NMR-spectroscopy in body fluids in patients with inherited metabolic diseases Contiguous gene syndrome Amidohydrolases Excretion chemistry.chemical_compound Atrophy NMR-spectroscopie in lichaamsvloeistoffen bij erfelijke metabole ziekten Internal medicine Genetics medicine Humans Dihydrothymine Genetics (clinical) Cholestasis medicine.diagnostic_test Microvilli Dihydrouracil medicine.disease Intestines Endocrinology Pyrimidines chemistry Dihydropyrimidinase Liver biopsy Child Preschool sense organs |
| Zdroj: | Journal of Inherited Metabolic Disease, 20, 681-688 Journal of inherited metabolic disease, 20(5), 681-688. Springer Netherlands Journal of inherited metabolic disease, 20, 681-688. Springer Netherlands Journal of Inherited Metabolic Disease, 20, pp. 681-688 |
| ISSN: | 1573-2665 0141-8955 |
| Popis: | We describe a boy of consanguineous parents who suffered from intractable diarrhoea due to congenital microvillous atrophy, a recessively inherited autosomal disorder. He developed severe cholestatis starting at 2 weeks of age and leading to liver cirrhosis. His psychomotor development 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 well as moderately elevated excretion of uracil and thymine in urine were repeatedly demonstrated, suggesting a disorder of pyrimidine degradation. 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 remains speculative, whether he suffered from two independently inherited metabolic diseases or whether this represents a hitherto undescribed contiguous gene syndrome. |
| Databáze: | OpenAIRE |
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