Dihydropyrimidine dehydrogenase deficiency presenting at birth by Al-Sanna'a N A, Van Kuilenburg A B P, Atrak T M, Abdul-Jabbar M A, Van Gennip A H in Journal of inherited metabolic disease (2005).

[PMID: 16151913] PubMed


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.

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