Definition:
Dihydropyrimidine dehydrogenase deficiency is an autosomal recessive metabolic disorder. It is characterized by an absence or a significantly decreased activity of the dihydropyrimidine dehydrogenase, which is an enzyme involved in the metabolic process of uracil and thymine. Individuals having this condition may develop toxicity, which may lead to death, after their exposure to 5-fluorouracil. 5-fluorouracil is a drug that is used in chemotherapy to treat of cancer.
Diagnosis:
Dihydropyrimidine dehydrogenase deficiency diagnostic procedures include administration of different laboratory or clinical observations including taking up of the patient's medical history.
Treatment:
Certain corrective treatments are done to correct the disorder, often times done considering factors such as the extent of the disease. Treatments are also well considered by both the physician and patient as some treatments may threaten the life of the patient if not handled well or if a wrong treatment is administered. Medical care and follow-up therapy are also done.
Symptoms and Signs:
There are no direct symptoms associated with the disease although it impedes proper metabolic process of the body.
Causes:
Causes of Dihydropyramide dehydrogenace deficiency, as the name itself implies, is because of an abnormal production as well as activity of the enzyme dihydropyramidine dehydrogenase which helps in a certain metabolic process.
:
dihydropyrimidinedehydrogenasedeficiency
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