Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD

• Published in: Nucleosides, nucleotides & nucleic acids Vol. 29; no. 4-6; pp. 509 - 514
• Main Authors: van Kuilenburg, A. B. P., Meijer, J., Gökcay, G., Baykal, T., Rubio-Gozalbo, M. E., Mul, A. N. P. M., de Die-Smulders, C. E. M., Weber, P., Mori, A. Capone, Bierau, J., Fowler, B., Macke, K., Sass, J. O., Meinsma, R., Hennermann, J. B., Miny, P., Zoetekouw, L., Roelofsen, J., Vijzelaar, R., Nicolai, J., Hennekam, R. C. M.
• Format: Journal Article
• Language: English
• Published: United States Taylor & Francis Group 01-06-2010
• Subjects: Convulsions; dehydrogenase; deletions; Dihydropyrimidine dehydrogenase; Dihydropyrimidine Dehydrogenase Deficiency - genetics; Dihydrouracil Dehydrogenase (NADP) - genetics; DNA Mutational Analysis; DPYD; Exons; Exons - genetics; Female; genomics; Hereditary diseases; Humans; Infant; Mental retardation; Motor skill learning; Mutation; nucleosides; Nucleotides; Peripheral blood mononuclear cells; pyrimidine; pyrimidines; Sequence Deletion - genetics; Thymine; Uracil; Urine
• ISSN: 1525-7770; 1532-2335
• DOI: 10.1080/15257771003730227

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.