Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.

ABSTRACT: Classic galactosaemia is an inherited metabolic disorder of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) resulting from mutations in the GALT gene. The objectives of the present study were the determination of the carrier frequency of classic galactosaemia in the Greek Cypriot population and the molecular characterization of the disease alleles. We performed an epidemiological study involving 528 Greek Cypriots originating from all parts of Cyprus. Carriers were identified by measuring GALT activity in red blood cells and were subsequently subjected to mutation analysis. A total of five mutations were identified in patients and carriers of classic galactosaemia: a large deletion of 8.5 kb previously reported by us (55% of alleles),

SUBMITTER: Papachristoforou R 

PROVIDER: S-EPMC6766971 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature