Abstract
Recently we have reported about a seven year old girl, the second child of non-consanguineous parents, with dihydrothymine dehydrogenase deficiency (1). In this report we present additional data of studies on the family of the child. The mother and younger brother of the patient showed elevated uracil and thymine concentrations in urine and serum. The measured uracil and thymine concentrations of these two members of the family are comparible to those of the patient. The grandmother, father and older sister of the patient had uracil and thymine concentrations between the values of controls and of the patient.
In fibroblasts the activity of dihydrothymine dehydrogenase was determined, as previously described (1). The results demonstrated that the mother and brother have a complete dihydrothymine dehydrogenase deficiency, just as was described for the patient (1). A partial deficiency of this enzyme was found in the fibroblasts of the father. For the sister and grandmother such a partial enzyme deficiency might be expected, but has still to be proven.
1. J.A.J.M. Bakkeren, et al, Clin.Chim.Acta 140 (1984), 247-256.
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Abreu, R., Bakkeren, J., Braakhekke, J. et al. DIHYDROTHYMINE DEHYDROGENASE DEFICIENCY IN A FAMILY LEADING TO ELEVATED LEVELS OF URACIL AND THYMINE: 51. Pediatr Res 19, 752 (1985). https://doi.org/10.1203/00006450-198507000-00071
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DOI: https://doi.org/10.1203/00006450-198507000-00071