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Article

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

BMC pediatrics - 22 May 2024

Wang Yong-Cai, Lan Lian-Cheng, Yang Xia, Xiao Juan, Liu Hai-Xin, Shan Qing-Wen

Abstract excerpt

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 during infancy if left untreated. It also may result in long-term complications in affected individuals. CASE PRESENTATION: This...

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PMID: 38778342
DOI: 10.1186/s12887-024-04769-0
PMCID: PMC11110268

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