Abstract
Background Galactosemia is an autosomal recessive metabolic disorder caused by the deficiency of enzymes involved in galactose metabolism resulting in complications like cataracts, hepatocellular damage and developmental delay. Nonetheless, no report is available on mutations in galactosemia genes from our population. The objective of the present study was to determine blood GALT and GALK activity in infants with cholestasis and congenital cataracts and to establish a spectrum of mutations in GALT and GALK genes.
Highlights
Galactosemia is an autosomal recessive metabolic disorder caused by the deficiency of enzymes involved in galactose metabolism resulting in complications like cataracts, hepatocellular damage and developmental delay
Material and methods 430 infants (2 days-11 months) with cholestasis admitted in Pediatric Gastroenterology over 3.5 years were evaluated for galactosemia
Mutation analysis for most common Q188R and N314D mutations in GALT gene was performed by Restriction Fragment Length Polymorphism (RFLP)
Summary
Molecular characterization of mutations in galactosemia genes: structural and functional implications. From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. 23-25 January 2013
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