A case report of classic galactosemia with a GALT gene variant and a literature review

• Main Authors: Yong-cai Wang (Author), Lian-cheng Lan (Author), Xia Yang (Author), Juan Xiao (Author), Hai-xin Liu (Author), Qing-wen Shan (Author)
• Format: Book
• Published: BMC, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT) deficiency, and this condition can be fatal duri...