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Greber, S., Guldberg, P., Scheibenreiter, S. and Strobl, W. (1995) Mutations in classical and Duarte 2 galactosemia. Pediatric Research, 38, 434 (Abstr.).

has been cited by the following article:

• TITLE: Coexistence of Duarte 1 and Duarte 2 variants of galactosemia with extrahepatic biliary atresia

  AUTHORS: Ramandeep Singh, Ketan Kulkarni, Gurjit Kaur, Babu Ram Thapa, Rajendra Prasad

  KEYWORDS: Duarte 1; Duarte 2; Extrahepatic Biliary Atresia; Galactosemia; Galatose-1-Phosphate Uridyl Transferase Gene; Los Angles

  JOURNAL NAME: Health, Vol.2 No.4, April 30, 2010

  ABSTRACT: Galactosemia is an autosomal recessive disorder caused by deficient or absent activities of one of the three enzymes involved in the galactose metabolic pathway. The predominant form is classic type galactosemia caused by severe reduction or absence of the galactose- 1-phosphate uridyl transferase (GALT) enzyme. Coexistence of extrahepatic biliary atresia (EHBA) with Duarte 1 and 2 variants of galactosemia has not been described earlier. Here we report a case of EHBA with concordant Duarte 1 and 2 variants of galactosemia in an infant with cholestasis. Genetic analysis of the index patient for galactosemia revealed presence of Duarte 1/Duarte 2 variants of galactosemia with genotype N314D-L218L/N314D-G1105C-GI391A- G1323A-5’UTR-119delGTCA. Clinical evaluation of the patient showed the presence of EHBA. Henceforth, it may be hypothesized that EHBA may have a genetic basis with simultaneous involvement of the GALT gene.