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Article

Dihydropyrimidine dehydrogenase deficiency presenting at birth.

Journal of inherited metabolic disease - 1 Jan 2005

Al-Sanna'a N A, Van Kuilenburg A B P, Atrak T M, Abdul-Jabbar M A, Van Gennip A H

Abstract excerpt

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...

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Identifiers

PMID: 16151913
DOI: 10.1007/s10545-005-4218-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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