A new case of dihydropyrimidine dehydrogenase deficiency.
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.
Brockstedt
M
M
Dept. of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.
Jakobs
C
C
Smit
L M
LM
van Gennip
A H
AH
Berger
R
R
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
D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP)