The patient was a 2-day-old male neonate of Pakistani origin who presented with convulsions. [hkmj.org]

5-fluorouracil toxicity. ( 23335937 ) BorrA s E....Carballo M. 2012 28 Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GMa88 gangliosidosis. ( 22353294 ) Ong M.T....Morton R.E. 2012 29 Reversible leukoencephalopathy with stroke-like presentation [malacards.org]

Anoxic stress may have contributed to the clinical presentation and brain findings in this case. [ncbi.nlm.nih.gov]

• Fever

  On day 14, the patient experienced fever, stomatitis, diarrhea, leucopenia (0.290×10 9 /l), neutropenia (0.012×10 9 /l), and thrombocytopenia (34×10 9 /l). [kjim.org]

  She was hypotonic and developed recurrent convulsions during fever at the age of 11 months but became convulsion-free by the age of 3 years. [karger.com]

  When there is a deficit, the administration of 5-FU mimics an accidental overdosage, with fever, marked neutropenia, mucositis, stomatitis and diarrhea [ 11, 12 ]. [omicsonline.org]

  After the appearance of fever and grade 4 neutropenia (0.02 × 10 9 /l), the antibiotic coverage was extended to piperacillin/tazobactam, but the patient developed septic shock and vasoactive drugs had to be perfused. [frontiersin.org]

  Although uridine has also been demonstrated to protect against 5-FU toxicity in humans, its low oral bioavailability, risk of fever and phlebitis, and the requirement for central venous access for parenteral administration limits its clinical utility. [pjms.com.pk]

• Swelling

  Redness, swelling, numbness, difficulty breathing, loss of hair and skin peeling on the palms of hands and soles of the feet may also appear. [ivami.com]

  Redness, swelling, numbness, and peeling of the skin on the palms and soles (hand-foot syndrome); shortness of breath; and hair loss may also occur. [ghr.nlm.nih.gov]

• Intravenous Administration

  Plasma levels of 5-fluorouracil after oral and intravenous administration in cancer patients. Briti J Clin Pharmacology1979;7(6):613-7. 37. Patt YZ, Hassan MM, Aguayo A, Nooka AK, Lozano RD, Curley SA, et al. [pjms.com.pk]

• Diarrhea

  Genetic deficiencies in DPD, the rate-limiting enzyme responsible for 5-FU catabolism, may occur in 3% or more of patients with cancer putting them at increased risk for unusually severe adverse reactions (e.g., diarrhea, stomatitis, mucositis, myelosuppression [ncbi.nlm.nih.gov]

  Toxicities included mucositis (71%), diarrhea (43%), skin rash (43%), memory loss/altered mental status (43%), cytopenias (43%), nausea (29%), hypotension (14%), respiratory distress (14%) and acute renal failure (14%) Re-challenge with capecitabine in [jhu.pure.elsevier.com]

  (no patients developed grade 4 diarrhea). 16 There was no statistically significant association between diarrhea and UGT1A1 genotype (one patient with diarrhea had the 7/7 genotype and two patients with diarrhea had the 6/7 genotype). [ajhp.org]

  It may be severe inflammation and ulceration of the mucosa of the gastrointestinal tract (mucositis), which can lead to signs and symptoms including mouth sores, abdominal pain, bleeding, nausea, vomiting and diarrhea. [ivami.com]

• Vomiting

  It may be severe inflammation and ulceration of the mucosa of the gastrointestinal tract (mucositis), which can lead to signs and symptoms including mouth sores, abdominal pain, bleeding, nausea, vomiting and diarrhea. [ivami.com]

  Severe inflammation and ulceration of the lining of the gastrointestinal tract (mucositis) may occur, which can lead to signs and symptoms including mouth sores, abdominal pain, bleeding, nausea, vomiting, and diarrhea. [ghr.nlm.nih.gov]

  Furthermore, no differences in risks of severe diarrhea, nausea, vomiting, and mucositis were observed between the two types of 5FU administration (22). [clincancerres.aacrjournals.org]

  This patient was a 60 year-old Caucasian woman with hepatocellular cancer, who was treated with capecitabine 37 & subsequently developed vomiting, diarrhea, colonic mucosal wall thickening, respiratory distress and hypotension. [pjms.com.pk]

  On day 6 of this treatment, the patient presented to the emergency department after 3–4 days of vomiting and diarrhea, intolerance to liquids and solids, and general malaise without fever or abdominal pain, despite having taken the prescribed ondansetron [frontiersin.org]

• Psychomotor Retardation

  We report a case of an 8-year-old girl with psychomotor retardation and mild course of the disease. Analysis of urine showed strongly elevated levels of uracil and thymine, and no DPD activity could be detected in peripheral blood mononuclear cells. [ncbi.nlm.nih.gov]

  {menu2} DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD) Bakker HD Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities, 1994, P. 640-641 et al. [metagene.de]

  […] dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). ( 19296131 ) Van Kuilenburg A.B....Rubio-Gozalbo M.E. 2009 41 Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor [malacards.org]

• Confusion

  […] recessive disorder dihydropyrimidine dehydrogenase deficiency (DPD), also known as hereditary thymine-uraciluria or familial pyrimidinemia. [ PMID 19296131 ] [ PMID 10071185 ][ PMID 15377401 ] Note that the terms used in the literature for this gene can be confusing [snpedia.com]

  During the third cycle of chemotherapy, her family noted progressive confusion, behavioral change, memory loss, and episodes of intermittent upper extremity paresthesias. [neurology.org]

  Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances Clinical Reference Recommendations for in-depth reading of a clinical nature [mayomedicallaboratories.com]

  Its real incidence is unknown, although it is less frequent than other variants of pemphigus, it could be an underdiagnosed entity since it can be confused with other dermatoses to which it resembles [ 14 ]. [omicsonline.org]

• Hyperactivity

  […] metabolism, systemic and rheumatological Phenotypes Agenesis of corpus callosum ; Autism ; Autosomal recessive inheritance ; Cerebral atrophy ; Coloboma ; Delayed speech and language development ; Failure to thrive ; Generalized hypotonia ; Growth delay ; Hyperactivity [mousephenotype.org]

  Faltering weight Weight faltering [ more ] 0001508 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Hyperactivity [rarediseases.info.nih.gov]

Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1. ( 30349988 ) 2019 2 Cytomegalovirus enterocolitis in a patient with dihydropyrimidine dehydrogenase deficiency after capecitabine treatment [malacards.org]

Kong Dihydropyrimidine dehydrogenase deficiency is an inborn error of pyrimidine metabolism characterised by thymine-uraciluria, convulsive disorders and developmental delay in paediatric patients, and an increased risk of toxicity from 5-fluorouracil treatment [hkmj.org]

We also discuss whether screening for DPD deficiency is warranted to identify patients at risk for severe toxicities from 5-FU treatment. [ncbi.nlm.nih.gov]

To date, screening of patients for the presence of a DPD deficiency prior to the treatment is not yet routinely performed. [doi.org]

Prognosis - Dihydropyrimidine dehydrogenase deficiency Not supplied. Treatment - Dihydropyrimidine dehydrogenase deficiency Not supplied. Resources - Dihydropyrimidine dehydrogenase deficiency Not supplied. [checkorphan.org]

Active carcinoma affect to prognosis. 18. Congenial hemorrhage or clotting abnormality 19. Current serious, uncontrolled infection or current known HIV infection. 20. [upload.umin.ac.jp]

This recommendation is further confounded by the therapeutic dilemma that tumors with low DPD levels are associated with improved 5-FU sensitivity 30,31 and better prognosis than high level DPD tumors. 32,33 Capecitabine offers an improved safety profile [pjms.com.pk]

DPD deficiency might be an etiological factor in the clinical picture of these patients. An autosomal recessive mode of inheritance of this deficiency was found. [ncbi.nlm.nih.gov]

On the one hand, the differential diagnosis of a skin reaction in a cancer patient with chemotherapy treatment includes a large number of etiologies: toxicity by the drug itself, infections, paraneoplastic syndromes, tumour dissemination, or nutritional [omicsonline.org]

In conclusion, a partial DPD deficiency appears to play an important role in the etiology of 5FU-associated toxicity. [clincancerres.aacrjournals.org]

Her CBC revealed leucopenia (1.600×10 9 /l), neutropenia (0.421×10 9 /l), and thrombocytopenia (41×10 9 /l), and after admission, the patient also manifested a fever of unidentified etiology. [kjim.org]

Future epidemiological studies would be helpful to determine the prevalence of DPD deficiency among racial and ethnic groups, allowing for the optimization of 5-FU chemotherapy. [ncbi.nlm.nih.gov]

Epidemiology Current research suggests that nearly 8% of the population has at least partial DPD deficiency. [ipfs.io]

[…] convulsive disorders of variable clinical expression,motor and mental retardation,mild or quite severe,hereditary and sensitivity to fluorouracyl in heterozygotes Relevant External Links for DPYD Genetic Association Database (GAD) DPYD Human Genome Epidemiology [genecards.org]

Future epidemiological studies would be helpful to determine the prevalence of DPD deficiency among racial and ethnic groups, allowing for the optimization of 5-FU chemotherapy. References Lu Z, Zhang R, Carpenter JT, Diasio RB. [joplink.net]

[…] variants associated with decreased or absent DPD enzyme activity Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

Overview Dihydropyrimidine dehydrogenase deficiency: A metabolic error where a deficiency of an enzyme called dihydropyrimidine dehydrogenase prevents the normal metabolism of certain proteins. [checkorphan.org]

M....Gamelin E. 2017 11 Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: The multiparametric approach is not convincing. ( 28923215 ) Etienne-Grimaldi M.C....Ciccolini [malacards.org]

With the ever-increasing number of patients with cancer likely to be treated with fluoropyrimidines, predicting and preventing the occurrence of such toxicities is now a major issue in clinical oncology. [ncbi.nlm.nih.gov]

Our goal is to provide information that can be used to develop effective means to prevent or reduce the severity of this metabolic condition. . [mayo.edu]