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]

• 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]

• Falling

  During the first week of September 1998, the patient and her family noted gait and balance difficulties associated with frequent falls. [neurology.org]

  MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines. [mybiosource.com]

• Sore Throat

  A 65-year-old woman presented in December 1997 with sore throat and dysphagia. A neck CT showed an abnormal soft tissue density in the region of the epiglottis. Subsequent biopsy revealed squamous cell carcinoma of the epiglottis (T3, N1, M0). [neurology.org]

• Dysphagia

  A 65-year-old woman presented in December 1997 with sore throat and dysphagia. A neck CT showed an abnormal soft tissue density in the region of the epiglottis. Subsequent biopsy revealed squamous cell carcinoma of the epiglottis (T3, N1, M0). [neurology.org]

• Suggestibility

  Another approach is to determine DPD activity in peripheral blood mononuclear cells, with low activity suggesting an increased risk of toxicity. [ncbi.nlm.nih.gov]

  Current research suggests that nearly 8% of the population has at least partial DPD deficiency. [en.wikipedia.org]

  Less severe, hemizygous chromosome deletions encompassing part of the DPYD gene have also been suggested to contribute to ASD independent of intellectual disability. [mayo.edu]

• 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]

• Withdrawn

  […] symbols: DPD ) Mouse Orthologs Dpyd (Withdrawn symbols: AI315208, E330028L06Rik ) Source OMIM:274270 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models [mousephenotype.org]

  Withdrawn Application number EP09807626A Other languages English ( en ) French ( fr ) Inventor Moritz Eidens Stefan Prause Alexander Weise Andreas Pfuetzner Current Assignee (The listed assignees may be inaccurate. [google.com.na]

  2002-01-16 2005-07-21 Clondiag Chip Technologies Gmbh Reaktionsgefäß zur Durchführung von Array-Verfahren 2009 2009-12-11 WO PCT/IB2009/007942 patent/WO2010067208A2/en active Application Filing 2009-12-11 EP EP09807626A patent/EP2373814A2/en not_active Withdrawn [encrypted.google.com]

  […] de ) 2002-01-16 2003-07-24 Clondiag Chip Tech Gmbh Reaktionsgefäß zur Durchführung von Array-Verfahren 2009 2009-12-11 WO PCT/IB2009/007942 patent/WO2010067208A2/en active Application Filing 2009-12-11 EP EP09807626A patent/EP2373814A2/en not_active Withdrawn [google.mk]

• Seizure

  Seizure 0001250 Tetraplegia Paralysis of all four limbs 0002445 Showing of 22 | Last updated: 6/1/2019 DPD deficiency is caused by mutations in the DPYD gene. [rarediseases.info.nih.gov]

  Symptoms - Dihydropyrimidine dehydrogenase deficiency 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 [checkorphan.org]

  At age 15 months, she was hospitalized for aspiration pneumonia and seizures, and also manifested hepatosplenomegaly. [ncbi.nlm.nih.gov]

  death Treatment: No specific treatment except for withdrawal of offending drug Dihydropyrimidinuria (222748*) Dihydropyrimidinase Biochemical profile: Elevated urinary dihydrouracil and dihydrothymine Clinical features: Variable; feeding problems, seizures [msdmanuals.com]

• Encephalopathy

  To further understanding of the spectrum of brain abnormalities associated with DPD deficiency, we report a 17-month-old girl, born to a consanguineous Pakistani couple, who had a history of encephalopathy, prolonged hypoventilation, developmental delay [ncbi.nlm.nih.gov]

  Encephalopathy after 5-FU occurs less frequently and is less clearly defined, with clinical features more typical of a diffuse metabolic encephalopathy. [neurology.org]

  60 CPT Codes - 81479 Specialties - Pharmacogenomics, Neurology / Neuropediatrics, Oncology, Metabolic Diseases CGC Reference - 1136 Associated Tests 5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes) Epileptic encephalopathy [cgcgenetics.com]

• 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]

• Peripheral Neuropathy

  >=grade 2 peripheral neuropathy. 15. Hyper sensitivity to fuluoropyrimidine or known dihydropyrimidine dehydrogenase (DPD) deficiency. 16. Current known viral hepatitis. 17. Active carcinoma affect to prognosis. 18. [upload.umin.ac.jp]

• White Matter Lesions

  Brain MRI shows multiple white matter lesions without mass effect. [neurology.org]

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]