Journal of Inherited Metabolic Disease

, Volume 28, Issue 5, pp 793–796

Dihydropyrimidine dehydrogenase deficiency presenting at birth

  • N. A. Al-Sanna’a
  • A. B. P. Van Kuilenburg
  • T. M. Atrak
  • M. A. Abdul Jabbar
  • A. H. Van Gennip
Case Report

DOI: 10.1007/s10545-005-4218-0

Cite this article as:
Al-Sanna’a, N.A., Van Kuilenburg, A.B.P., Atrak, T.M. et al. J Inherit Metab Dis (2005) 28: 793. doi:10.1007/s10545-005-4218-0

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.

Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • N. A. Al-Sanna’a
    • 1
  • A. B. P. Van Kuilenburg
    • 1
    • 3
  • T. M. Atrak
    • 2
  • M. A. Abdul Jabbar
    • 1
  • A. H. Van Gennip
    • 2
  1. 1.Division of PediatricsDhahran Health CenterSaudi AramcoSaudi Arabia
  2. 2.Academic Medical Center, Emma Children’s Hospital and Department of Clinical ChemistryUniversity of AmsterdamAmsterdamThe Netherlands
  3. 3.Dhahran Health CenterSaudi AramcoSaudi Arabia