Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.
Dihydropyrimidine dehydrogenase (DPD) deficiency has been linked to 5-fluorouracil toxicity, but patients may present a wide clinical spectrum. We describe a 1-year-old Tunisian girl with a dramatic onset of neurological symptoms suggesting the possible triggering role of environmental factors.
Fiumara
A
A
Center for Inborn Errors of Metabolism, Department of Paediatrics, University of Catania, Catania, Italy. afiumara@katamail.com
van Kuilenburg
A B P
AB
Caruso
U
U
Nucifora
C
C
Marzullo
E
E
Barone
R
R
Meli
C
C
van Gennip
A H
AH
D000208:Acute Disease; D054067:Dihydropyrimidine Dehydrogenase Deficiency; D042943:Dihydrouracil Dehydrogenase (NADP) / Q000378:metabolism*; D004660:Encephalitis / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications* / Q000503:physiopathology; D011782:Quadriplegia / Q000209:etiology*; D012021:Reflex, Abnormal
D042943:Dihydrouracil Dehydrogenase (NADP)