SCIENTIFIC BACKGROUND

DPYD

SCIENTIFIC BACKGROUND

Genetic DPD deficiency leads to disorders of pyrimidine metabolism. Patients with two pathogenic variants in both alleles of the DPYD gene in combined heterozygous or homozygous form often present with developmental disorders, seizures, short stature, microcephaly, dysmorphia and autistic behaviors. A clear genotype-phenotype correlation has not yet been demonstrated, as the expression of symptoms in patients described in the literature varies widely. To date, the underlying pathomechanism of the syndrome is also not clear. A laboratory diagnosis of thymine uraciluria specifically indicates DPD deficiency.

 

Chemotherapy with 5-fluorouracil (5-FU) and its prodrugs is contraindicated in patients with this syndrome.

 

References

Al-Sanna'a et al. 2005, J Inherit Metab Dis 28:793 / Albin et al. 1995, Proc Am Assoc Cancer Res 36: 211 / Berger et al. 1984, Clin Chim Acta 141: 227

GENES

DPYD

ASSOCIATED TESTS

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