Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.

van Kuilenburg, A.; Meijer, J.; Gokcay, GÜLDEN; Baykal, T.; Rubio-Gozalbo, M.; Mul, A.; de Die-Smulders, C.; Weber, P.; Mori, A.; Bierau, J.; Fowler, B.; Macke, K.; Sass, J.; Meinsma, R.; Hennermann, J.; Miny, P.; Zoetekouw, L.; Roelofsen, J.; Vijzelaar, R.; Nicolai, J.; Hennekam, R.

doi:10.1080/15257771003730227

Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.

van Kuilenburg A. B. P., Meijer J., Gokcay G. F., Baykal T., Rubio-Gozalbo M. E., Mul A. N. P. M., ...Daha Fazla

Nucleosides, nucleotides & nucleic acids, cilt.29, ss.509-14, 2010 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 29
Basım Tarihi: 2010
Doi Numarası: 10.1080/15257771003730227
Dergi Adı: Nucleosides, nucleotides & nucleic acids
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.509-14
İstanbul Üniversitesi Adresli: Evet

Özet

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.