Dihydropyrimidine dehydrogenase deficiency
Overview
Dihydropyrimidine dehydrogenase deficiency: A metabolic error where a deficiency of an enzyme called dihydropyrimidine dehydrogenase prevents the normal metabolism of certain proteins. High levels of certain proteins are excreted in the urine. The enzyme is also needed the breakdown a chemotherapy drug called 5-flurouracil and its absence can result in a severe toxicity reaction.
Symptoms
The list of signs and symptoms mentioned in various sources for Dihydropyrimidine dehydrogenase deficiency includes the 14 symptoms listed below: * Seizures * Hypertonia * Increased reflex response * Small head * Deficiency of dihydropyrimidine dehydrogenase * Brain dysmyelination * Low blood platelet level * Reduced number of neutrophils in blood * Fluoouracil toxicity * Abnormal brain (cerebral) function * High uracil level in urine * High thymine level in urine * High 5-hydroxymethyluracil level in urine * Convulsions
Causes
* Brain dysmyelination * Convulsions * Increased reflex response * Low blood platelet level * Seizures * Small head
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Dihydropyrimidine dehydrogenase deficiency. This medical information about signs and symptoms for Dihydropyrimidine dehydrogenase deficiency has been gathered from various sources, may not be fully accurate, and may not be the full list of Dihydropyrimidine dehydrogenase deficiency signs or Dihydropyrimidine dehydrogenase deficiency symptoms. Furthermore, signs and symptoms of Dihydropyrimidine dehydrogenase deficiency may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Dihydropyrimidine dehydrogenase deficiency symptoms.