Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.

Artur Mazur; Szymon Figurski; Anna Płoskoń; Judith Meijer; Lida Zoetekouw; Stanisława Watróbska; Jolanta Sykut-Cegielska; Wanda Gradowska; André B P van Kuilenburg

doi:10.18388/abp.2008_3041

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.

Artur Mazur Medical Faculty, University of Rzeszow, Poland. drmazur@poczta.onet.pl;
Szymon Figurski
Anna Płoskoń
Judith Meijer
Lida Zoetekouw
Stanisława Watróbska
Jolanta Sykut-Cegielska
Wanda Gradowska
André B P van Kuilenburg

DOI: https://doi.org/10.18388/abp.2008_3041

Abstract

Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare defect of the first step of the pyrimidine catabolic pathway. Patients with a complete enzyme deficiency may be clinically asymptomatic or suffer from neurological abnormalities of various severity. We report a case of an 8-year-old girl with psychomotor retardation and mild course of the disease. Analysis of urine showed strongly elevated levels of uracil and thymine, and no DPD activity could be detected in peripheral blood mononuclear cells. Sequence analysis of the DPD gene (DPYD) revealed that our patient was homozygous for the common splice-site mutation IVS14+1G > A, which suggest that the carrier status for this mutation may be not rare in the Polish population.

Published

2008-12-16

Issue

Vol. 55 No. 4 (2008)

Section

Articles

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