| Autor: |
Al-Sanna’a, N., Kuilenburg, A., Atrak, T., Jabbar, M., Gennip, A. |
| Zdroj: |
Journal of Inherited Metabolic Disease; Sep2005, Vol. 28 Issue 5, p793-796, 4p |
| Abstrakt: |
Dihydropyrimidine dehydrogenase (DPD) deficiency (McKusick 274270) is a clinically heterogeneous autosomal recessive disorder of pyrimidine metabolism. DPD is the enzyme that catalyses the first and the rate-limiting step in the catabolism of uracil, thymine and the analogue 5-fluorouracil. To date, more than 30 patients have been diagnosed with a complete enzyme deficiency. Here, we describe the fifth case with a complete DPD deficiency presenting at birth with severe neurological abnormalities. The patient was homozygous for the common splice-site mutation IVS14+1G > A. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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