loading...| Preferred Name |
Dihydropyrimidine dehydrogenase deficiency |
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| Synonyms |
Familial pyrimidinemia |
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| Definitions |
A rare disorder of pyrimidine metabolism characterized by a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_1675 |
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| alternative_term |
Familial pyrimidinemia |
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| definition |
A rare disorder of pyrimidine metabolism characterized by a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675 |
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| has_age_of_onset |
All ages |
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| hasDbXref |
MeSH:D054067 ICD-10:E79.8 ICD-11:5C55.1 MedDRA:10052622 UMLS:C1959620 OMIM:274270 |
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| label |
Dihydropyrimidine dehydrogenase deficiency |
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| notation |
ORPHA:1675 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_1675 |
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| prefLabel |
Dihydropyrimidine dehydrogenase deficiency |
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| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |