Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey

Abstract excerpt

Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Enzymes and Metabolism
• Share to Metabolism and Genetic Disorders
• Share to Neonatal Health and Biochemistry