A new case of dihydropyrimidine dehydrogenase deficiency

descriptionPublicationkeyboard_double_arrow_right Article 27 Apr 1989 Netherlands English Publisher:WileyJournal:Journal of Inherited Metabolic Disease, volume 13, pages 121-124 (issn: 0141-8955, eissn: 1573-2665,

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Authors: BROCKSTEDT, M; JAKOBS, C; SMIT, LME; VANGENNIP, AH; BERGER, R;

doi: 10.1007/bf01799339

pmid: 2109146

handle: 11370/78d36d7e-ac00-402e-acfd-2e8a3c6693a3

A new case of dihydropyrimidine dehydrogenase deficiency

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Abstract

SummaryWe present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia.

Country

Netherlands

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Keywords

Male, Purine-Pyrimidine Metabolism, Inborn Errors, Epilepsy, Brain, Infant, Intellectual Disability, Muscle Hypertonia, Humans, Oxidoreductases, Dihydrouracil Dehydrogenase (NADP)

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