Mehrnoosh Moody Author

Research Article Subscription

Molecular characterization of Galactosemia in Iran: identification of Eleven mutations.

Author(s):

Mehrnoosh Moody

Background: Classical Galactosemia (CG) is an autosomal recessive disease occurs in newborn and its outcome is galactose metabolism abnormality which is caused by the galactose-1-phosphate uridyltransferase enzyme deficiency. It is classically typified by neonatal galactose intolerance, with primary clinical manifestation such as neonatal jaundice and liver failure and late complications such as reproductive and motor dysfunctions. Genetic backbones of CG are various and include heterogeneous hundreds of mutations which are taken place in the GALT gene and linked to certain populations. Methods: This study evaluates mutations identified in 31 patients with CG and parents of them in general population of Iran. The frequency of mutations in this gene was assessed by direct sequencing and ... view more»

Abstract HTML PDF