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BORDERLINE GALACTOSEMIA
Author(s) -
PETTERSSON R.,
DAHLQVIST A.,
HATTEVIG G.,
KJELLMAN B.
Publication year - 1980
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1980.tb07142.x
Subject(s) - galactosemia , medicine , pediatrics , galactose , biochemistry , chemistry
. Pettersson, R., Dahlqvist, A., Hattevig, G. and Kjellman, B. (Department of Paediatrics Central Hospital, Skövde and Department of Nutrition, University of Lund, Sweden). Borderline galactosemia. Acta Paediatr Scand, 69:735, 1980.—A family with combined heterozygosity for “classical” galactosemia (deficiency of uridyl‐transferase) and for galactokinase deficiency is reported. The proband, who had this genetic combination was detected as newborn in the ordinary screening for galactosemia. A lactose tolerance test at the age of three months proved normal and he has no symptoms or signs on ordinary diet. The mother of the proband was not only heterozygot for “classical” galactosemia and galactokinase deficiency but also for the Duarte variant. She had a substantial urine excretion of galactose and high serum galactose after an oral lactose load. She had no clinical symptoms or signs. Patients with combined heterozygosity for galactosemia may develop cataracts and should be followed by clinical examinations.