title: Dihydropyrimidine dehydrogenase deficiency presenting at birth.
abstract: 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.
authors.affiliation: Division of Pediatrics, Dhahran Health Center, Saudi Aramco, Dhahran, Saudi Arabia.
authors.forename: N A
authors.initials: NA
authors.lastname: Al-Sanna'a
authors.forename: A B P
authors.initials: AB
authors.lastname: Van Kuilenburg
authors.forename: T M
authors.initials: TM
authors.lastname: Atrak
authors.forename: M A
authors.initials: MA
authors.lastname: Abdul-Jabbar
authors.forename: A H
authors.initials: AH
authors.lastname: Van Gennip
mesh_terms: D017668:Age of Onset; D000963:Antimetabolites / Q000378:metabolism; D001665:Binding Sites; D004065:Digestive System Abnormalities / Q000209:etiology; D054067:Dihydropyrimidine Dehydrogenase Deficiency; D005260:Female; D005472:Fluorouracil / Q000494:pharmacology; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D009135:Muscular Diseases / Q000209:etiology; D009154:Mutation; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis*; D013941:Thymine / Q000737:chemistry / Q000652:urine; D014498:Uracil / Q000737:chemistry / Q000652:urine
chemical_list: D000963:Antimetabolites; D014498:Uracil; D013941:Thymine; D005472:Fluorouracil