A new case of dihydropyrimidine dehydrogenase deficiency

M Brockstedt; C Jakobs; L M Smit; A H van Gennip; R Berger

doi:10.1007/BF01799339

A new case of dihydropyrimidine dehydrogenase deficiency

J Inherit Metab Dis. 1990;13(1):121-4. doi: 10.1007/BF01799339.

Authors

M Brockstedt¹, C Jakobs, L M Smit, A H van Gennip, R Berger

Affiliation

¹ Dept. of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.

PMID: 2109146
DOI: 10.1007/BF01799339

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.

Publication types

Case Reports

MeSH terms

Brain / pathology
Dihydrouracil Dehydrogenase (NADP)
Epilepsy / etiology
Humans
Infant
Intellectual Disability / etiology
Male
Muscle Hypertonia / etiology
Oxidoreductases / deficiency*
Purine-Pyrimidine Metabolism, Inborn Errors / complications
Purine-Pyrimidine Metabolism, Inborn Errors / enzymology*
Purine-Pyrimidine Metabolism, Inborn Errors / pathology

Substances

Oxidoreductases
Dihydrouracil Dehydrogenase (NADP)