Galactosemia : A Genetic Disease of Leloir Pathway

Galactosemia is a genetic disorder which causes inability to metabolize galactose in the body. Our body converts galactose into glycolytic intermediate by Leloir pathway. Galactosemia is caused by the mutation in the gene encoding enzymes of Leloir pathway or non-functioning of these enzymes. Types of galactosemia are due to different enzyme deficiencies. Type I is for GALT (galactose-1-phosphate uridylyl transferases) enzyme deficiency, type II is for GALK (galactose kinase) and type III is for GALE (uridine-diphosphate galactose-4-epimerase) deficiency in the body. Structural alterations in the enzyme conformation, due to defective gene, cause loss of enzyme activity by disrupting enzyme active site. These cause accumulation of galactose and its derivatives causing many problems like cataracts, brain damage and liver damage etc. Their symptoms appear like low weight, jaundice, vomiting etc. This disease is diagnosed via number of test like genetic test, blood test, urine test, new born screening etc. For treatment of galactosemia, strict diet plan is recommended to patients containing galactose free diet such as fermented food etc. Research related to drug treatment is the scope in galactosemia.