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Abstract
A family with dihydropyrimidine dehydrogenase (DPD) deficiency is presented. In 3
persons a complete deficiency, and in 3 others a partial deficiency was detected in
cultured fibroblasts. Two homozygote subjects and 1 heterozygote subject suffered
from epileptic manifestations, in one of these homozygote subjects also microcephaly
was found. DPD deficiency might be an etiological factor in the clinical picture of
these patients. An autosomal recessive mode of inheritance of this deficiency was
found.
Keywords
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Article info
Publication history
Accepted:
September 12,
1986
Received in revised form:
September 12,
1986
Received:
August 11,
1986
Identification
Copyright
© 1987 Published by Elsevier Inc.
