loading...| Preferred Name |
Dihydropyrimidine dehydrogenase deficiency |
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| Synonyms |
DPYDD |
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| Definitions |
(DPYDD) - A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5- fluorouracil. |
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| ID |
http://identifiers.org/omim/274270 |
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| altLabel |
DPYDD |
|
| definition |
(DPYDD) - A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5- fluorouracil. |
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| id |
OMIM:274270 |
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| notation |
OMIM:274270 |
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| prefLabel |
Dihydropyrimidine dehydrogenase deficiency |
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| subClassOf |