Literature DB >> 3572451

Dihydropyrimidine dehydrogenase deficiency. Neurological aspects.

J P Braakhekke, W O Renier, F J Gabreëls, R A De Abreu, J A Bakkeren, R C Sengers.   

Abstract

A family with dihydropyrimidine dehydrogenase (DPD) deficiency is presented. In 3 persons a complete deficiency, and in 3 others a partial deficiency was detected in cultured fibroblasts. Two homozygote subjects and 1 heterozygote subject suffered from epileptic manifestations, in one of these homozygote subjects also microcephaly was found. 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.

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Year:  1987        PMID： 3572451     DOI： 10.1016/0022-510x(87)90079-7

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  13 in total

1.  Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E. coli.

Authors:  P Vreken; A B van Kuilenburg; R Meinsma; F A Beemer; M Duran; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

Review 2.  When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.

Authors:  H A Simmonds; J A Duley; L D Fairbanks; M B McBride
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

3.  Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.

Authors:  P Vreken; A B Van Kuilenburg; R Meinsma; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

4.  Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings.

Authors:  Bee Chin Chen; Rowani Mohd Rawi; Rutger Meinsma; Judith Meijer; Raoul C M Hennekam; André B P van Kuilenburg
Journal:  Mol Syndromol       Date:  2014-09-25

5.  Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

Authors:  M Fleger; J Willomitzer; R Meinsma; M Alders; J Meijer; R C M Hennekam; M Huemer; A B P van Kuilenburg
Journal:  JIMD Rep       Date:  2017-03-09

Review 6.  Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.

Authors:  A H van Gennip; N G Abeling; P Vreken; A B van Kuilenburg
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

7.  A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.

Authors:  P Vreken; A B Van Kuilenburg; R Meinsma; G P Smit; H D Bakker; R A De Abreu; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

8.  Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities.

Authors:  H D Bakker; M E Rubio Gozalbo; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

9.  Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity.

Authors:  Steven M Offer; Natalie J Wegner; Croix Fossum; Kangsheng Wang; Robert B Diasio
Journal:  Cancer Res       Date:  2013-01-17       Impact factor: 12.701

Review 10.  When and how does one search for inborn errors of purine and pyrimidine metabolism?

Authors:  H A Simmonds
Journal:  Pharm World Sci       Date:  1994-04-15
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