title: Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.
abstract: Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of uracil and thymine were detected in urine. No DPD activity could be detected in peripheral blood mononuclear cells. Analysis of the gene encoding DPD (DPYD) showed that the patient was homozygous for a novel c.505_513del (p.169_171del) mutation in exon 6 of DPYD.
authors.affiliation: Academic Medical Center, Amsterdam, the Netherlands. a.b.vanKuilenburg@amc.uva.nl
authors.forename: A B P
authors.initials: AB
authors.lastname: van Kuilenburg
authors.forename: J
authors.initials: J
authors.lastname: Meijer
authors.forename: G
authors.initials: G
authors.lastname: Gökcay
authors.forename: T
authors.initials: T
authors.lastname: Baykal
authors.forename: M E
authors.initials: ME
authors.lastname: Rubio-Gozalbo
authors.forename: A N P M
authors.initials: AN
authors.lastname: Mul
authors.forename: C E M
authors.initials: CE
authors.lastname: de Die-Smulders
authors.forename: P
authors.initials: P
authors.lastname: Weber
authors.forename: A Capone
authors.initials: AC
authors.lastname: Mori
authors.forename: J
authors.initials: J
authors.lastname: Bierau
authors.forename: B
authors.initials: B
authors.lastname: Fowler
authors.forename: K
authors.initials: K
authors.lastname: Macke
authors.forename: J O
authors.initials: JO
authors.lastname: Sass
authors.forename: R
authors.initials: R
authors.lastname: Meinsma
authors.forename: J B
authors.initials: JB
authors.lastname: Hennermann
authors.forename: P
authors.initials: P
authors.lastname: Miny
authors.forename: L
authors.initials: L
authors.lastname: Zoetekouw
authors.forename: J
authors.initials: J
authors.lastname: Roelofsen
authors.forename: R
authors.initials: R
authors.lastname: Vijzelaar
authors.forename: J
authors.initials: J
authors.lastname: Nicolai
authors.forename: R C M
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D004252:DNA Mutational Analysis; D054067:Dihydropyrimidine Dehydrogenase Deficiency / Q000235:genetics*; D042943:Dihydrouracil Dehydrogenase (NADP) / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D042943:Dihydrouracil Dehydrogenase (NADP)