Sequencing of mutations in classic galactosemia type 1 and the duarte variant

摘要

Galactosemia (type 1) is an autosomal recessive genetic disorderarising from UDPglucose-hexose-1-phosphate uridylyltransferase(galactose-1-phosphate uridyltransferase; GALT) deficiency. Thisdisease causes liver failure, renal failure, and cataracts unless thePatient follows a strict lactose-free diet. Recently, subjects withvarious degress of GALT enzyme activity have been found by massscreening of newborns in various countries. I sequenced the GALT genefrom four Japanese families with members having low GALT activity.