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Article

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.

Annals of human genetics - 1 Nov 2023

Kalay Irem, Gulec Cagri, Balcı Mehmet Cihan, Toksoy Guven, Gokcay Gulden, Basaran Seher, Demirkol Mubeccel, Uyguner Zehra Oya

Abstract excerpt

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...

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Identifiers

PMID: 37563963
DOI: 10.1111/ahg.12523

Genes

GALT

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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