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Article

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.

Orphanet journal of rare diseases - 29 Sept 2021

Chen Yuanying, Fang Boliang, Hu Xuyun, Guo Ruolan, Guo Jun, Fang Kenan, Ni Jingwen, Li Wei, Qian Suyun, Hao Chanjuan

Abstract excerpt

BACKGROUND: Thiamine metabolism dysfunction syndrome 4 (THMD4, OMIM #613710) is an autosomal recessive inherited disease caused by the deficiency of SLC25A19 that encodes the mitochondrial thiamine pyrophosphate (TPP) transporter. This disorder is characterized by bilateral striatal degradation and progressive polyneuropathy with the onset of fever of unknown origin. The limited number of reported cases and lack...

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PMID: 34587972
DOI: 10.1186/s13023-021-02028-4
PMCID: PMC8480130

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