Dihydropyrimidinase Deficiency, a Progressive Neurological Disorder?
نویسندگان
چکیده
منابع مشابه
Fatigue in Progressive Neurological Conditions: A Literature Review
This paper reviews the current literature examining the pervasive symptom of fatigue experienced in three of the most common degenerative neurological conditions: multiple sclerosis (MS), Parkinson’s disease (PD) and post-polio syndrome (PPS). The existing literature can be considered under four headings definition and prevalence, type, cause, impact of fatigue. Fatigue is a common symptom in d...
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Dihydropyrimidinase (DHP) is the second enzyme in the catabolism of 5-fluorouracil (5FU), and it has been suggested that patients with a deficiency of this enzyme are at risk from developing severe 5FU-associated toxicity. In this study, we demonstrated for the first time that in one patient the severe toxicity, after a treatment with 5FU, was attributable to a partial deficiency of DHP. Analys...
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Dihydropyrimidinase deficiency is an autosomal recessive inborn error of metabolism characterised by the presence of dihydropyrimidinuria. Its clinical presentation is variable and has also been reported in asymptomatic subjects. We report the first case of dihydropyrimidinase deficiency in Hong Kong, which is also the first reported in a Chinese subject. The patient was a 32-month-old boy who ...
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A 13 year old male with a severe progressive neurological disorder was found to have a pseudodicentric chromosome resulting from a telomeric fusion 15p;20p. In lymphocytes, the centromeric constriction of the abnormal chromosome was always that of the chromosome 20, while in fibroblasts both centromeres were alternately constricted. Cd staining was positive only at the active centromere, but a ...
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ژورنال
عنوان ژورنال: Neuropediatrics
سال: 1997
ISSN: 0174-304X,1439-1899
DOI: 10.1055/s-2007-973681