title: A new case of dihydropyrimidine dehydrogenase deficiency.
abstract: We 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.
authors.affiliation: Dept. of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Brockstedt
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: L M
authors.initials: LM
authors.lastname: Smit
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
authors.forename: R
authors.initials: R
authors.lastname: Berger
mesh_terms: D001921:Brain / Q000473:pathology; D042943:Dihydrouracil Dehydrogenase (NADP); D004827:Epilepsy / Q000209:etiology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D009122:Muscle Hypertonia / Q000209:etiology; D010088:Oxidoreductases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology* / Q000473:pathology
chemical_list: D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP)