- Tytuł:
- Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient
- Autorzy:
-
Mazur, Artur
Figurski, Szymon
Płoskoń, Anna
Meijer, Judith
Zoetekouw, Lida
Wątróbska, Stanisława
Sykut-Cegielska, Jolanta
Gradowska, Wanda
van Kuilenburg, André - Powiązania:
- https://bibliotekanauki.pl/articles/1040687.pdf
- Data publikacji:
- 2008
- Wydawca:
- Polskie Towarzystwo Biochemiczne
- Tematy:
-
dihydropyrimidine dehydrogenase deficiency
psychomotor retardation
child - Opis:
- 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.
- Źródło:
-
Acta Biochimica Polonica; 2008, 55, 4; 787-790
0001-527X - Pojawia się w:
- Acta Biochimica Polonica
- Dostawca treści:
- Biblioteka Nauki
Artykuł