Dihydropyrimidine dehydrogenase deficiency presenting at birth
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- Al-Sanna’a, N.A., Van Kuilenburg, A.B.P., Atrak, T.M. et al. J Inherit Metab Dis (2005) 28: 793. doi:10.1007/s10545-005-4218-0
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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.