Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype
Irem Kalay,
Cagri Gulec,
Mehmet Cihan Balcı
et al.
Abstract:Classic galactosemia (OMIM#230400) is an autosomal recessive inborn error of carbohydrate metabolism caused by a deficiency of the galactose‐1‐phosphate‐uridyl‐transferase enzyme encoded by the GALT gene. Even though a galactose‐restricted diet efficiently resolves the acute complications, it is insufficient to prevent long‐term complications regarding speech defects, intellectual functioning, premature ovarian failure, cataract, hepatomegaly, dysarthria, ataxia, and tremor. Seventy‐seven patients who were gen… Show more
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