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Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review

1 Jul 2021

Abstract excerpt

Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused by SLC19A3 mutations, inherited in autosomal recessive pattern. As a treatable disease, early diagnosis and therapy with vitamin supplementation is important to improve the prognosis. So far, the reported cases were mainly from Saudi Arab regions, and presented with relatively simple clinical course because of the hot spot...

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PMID: 34276785
DOI: 10.3389/fgene.2021.683255

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