coexistence of duarte 1 and duarte 2 variants of galactosemia with extrahepatic biliary atresia共存的duarte 1和duarte 2半乳糖血症,肝外胆道闭锁的变体.pdfVIP

Vol.2, No.4, 286-290 (2010) Health doi:10.4236/health.2010.24041 Coexistence of Duarte 1 and Duarte 2 variants of galactosemia with extrahepatic biliary atresia* 1 2 3 2 1 Ramandeep Singh , Ketan Kulkarni , Gurjit Kaur , Babu Ram Thapa , Rajendra Prasad 1Department of Biochemistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India 2Division of Pediatric Gastroenterology, Postgraduate Institute of Medical Education and Research, Chandigarh, India 3Department of Physiology, Government Medical College and Hospital, Chandigarh, India; fateh1977@ Received 3 December 2009; revised 11 January 2010; accepted 15 January 2010. ABSTRACT semia has been reported in literature, synchronous pres- ence of these 2 variants with extrahepatic biliary atresia Galactosemia is an autosomal recessive disor- (EHBA) has not been documented [1,2]. In this commu- der caused by deficient or absent activities of nication, we report a case of EHBA coexisting with one of the three enzymes involved in the ga- Duarte 1 and Duarte 2 variants of galactosemia detected lactose metabolic pathway. The predominant at our center during evaluation of cholestatic infants for form is classic type galactosemia caused by galactosemia. severe reduction or absence of the galactose- 1-phosphate uridyl transferase (GALT) enzyme. 2. MATERIAL AND METHODS Coexistence of extrahepatic biliary atresia (EHBA) with Duarte 1 and 2 variants of gal