U.S. flag

An official website of the United States government

GTR Home > Tests > 5-fluorouracil toxicity, 274270, Autosomal recessive (Dihydropyrimidine dehydrogenase deficiency) (MLPA)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

Help

Imported from OMIM

Dihyropyrimidine dehydrogenase deficiency (DPYDD) shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999). Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

Clinical features

Help

Imported from Human Phenotype Ontology (HPO)

  • Autism
  • Congenital ocular coloboma
  • Lethargy
  • Microphthalmia
  • Hypertonia
  • Hypotonia
  • Nystagmus
  • Optic atrophy
  • Tetraplegia
  • Seizure
  • Corpus callosum, agenesis of
  • Cerebral atrophy
  • Hyperactivity
  • Delayed speech and language development
  • Growth delay
  • Motor delay
  • Failure to thrive
  • Intellectual disability
  • Uraciluria
  • Reduced dihydropyrimidine dehydrogenase level
  • Microcephaly
  • Elevated urinary dihydrothymine level
Show all

Inheritance pattern

Help

Autosomal recessive inheritance

Conditions tested

Target population

Help

5-fluorouracil toxicity, 274270, Autosomal recessive (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.