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Dihydropyrimidine dehydrogenase deficiency presenting at birth
Author(s) -
AlSanna'a N. A.,
Van Kuilenburg A. B. P.,
Atrak T. M.,
Jabbar M. A. Abdul,
Van Gennip A. H.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-4218-0
Subject(s) - dihydropyrimidine dehydrogenase , uracil , medicine , enzyme , thymine , genetics , pediatrics , endocrinology , biology , biochemistry , fluorouracil , chemotherapy , dna , thymidylate synthase
Summary 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.