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A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding.
Clin Biochem. 2011 Jun; 44(8-9):722-4.CB

Abstract

OBJECTIVES

Evaluation of a non-synonymous mutation associated with dihydropyrimidine dehydrogenase (DPD) deficiency.

DESIGN AND METHODS

DPD enzyme analysis, mutation analysis and molecular dynamics simulations based on the 3D-model of DPD.

RESULTS

The substitution Lys63Glu is likely to affect the FAD binding pocket within the DPD protein and contributes to a near-complete DPD deficiency in a patient with developmental retardation.

CONCLUSIONS

Like other DPD variants attenuating FAD binding, Lys63Glu should be included in screening for DPD deficiency.

Authors+Show Affiliations

Gemeinschaftspraxis für Humangenetik Demuth und Weidensee, D-99084 Erfurt, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21420945

Citation

Weidensee, Sabine, et al. "A Mild Phenotype of Dihydropyrimidine Dehydrogenase Deficiency and Developmental Retardation Associated With a Missense Mutation Affecting Cofactor Binding." Clinical Biochemistry, vol. 44, no. 8-9, 2011, pp. 722-4.
Weidensee S, Goettig P, Bertone M, et al. A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. Clin Biochem. 2011;44(8-9):722-4.
Weidensee, S., Goettig, P., Bertone, M., Haas, D., Magdolen, V., Kiechle, M., Meindl, A., van Kuilenburg, A. B., & Gross, E. (2011). A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. Clinical Biochemistry, 44(8-9), 722-4. https://doi.org/10.1016/j.clinbiochem.2011.03.033
Weidensee S, et al. A Mild Phenotype of Dihydropyrimidine Dehydrogenase Deficiency and Developmental Retardation Associated With a Missense Mutation Affecting Cofactor Binding. Clin Biochem. 2011;44(8-9):722-4. PubMed PMID: 21420945.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. AU - Weidensee,Sabine, AU - Goettig,Peter, AU - Bertone,Marko, AU - Haas,Dorothea, AU - Magdolen,Viktor, AU - Kiechle,Marion, AU - Meindl,Alfons, AU - van Kuilenburg,André B P, AU - Gross,Eva, Y1 - 2011/03/21/ PY - 2011/03/03/received PY - 2011/03/09/accepted PY - 2011/3/23/entrez PY - 2011/3/23/pubmed PY - 2011/10/5/medline SP - 722 EP - 4 JF - Clinical biochemistry JO - Clin Biochem VL - 44 IS - 8-9 N2 - OBJECTIVES: Evaluation of a non-synonymous mutation associated with dihydropyrimidine dehydrogenase (DPD) deficiency. DESIGN AND METHODS: DPD enzyme analysis, mutation analysis and molecular dynamics simulations based on the 3D-model of DPD. RESULTS: The substitution Lys63Glu is likely to affect the FAD binding pocket within the DPD protein and contributes to a near-complete DPD deficiency in a patient with developmental retardation. CONCLUSIONS: Like other DPD variants attenuating FAD binding, Lys63Glu should be included in screening for DPD deficiency. SN - 1873-2933 UR - https://www.unboundmedicine.com/medline/citation/21420945/A_mild_phenotype_of_dihydropyrimidine_dehydrogenase_deficiency_and_developmental_retardation_associated_with_a_missense_mutation_affecting_cofactor_binding_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0009-9120(11)00145-7 DB - PRIME DP - Unbound Medicine ER -