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

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

Abstract 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 degradat...

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Bibliographic Details
Main Authors: Yuanying Chen, Boliang Fang, Xuyun Hu, Ruolan Guo, Jun Guo, Kenan Fang, Jingwen Ni, Wei Li, Suyun Qian, Chanjuan Hao
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
SLC25A19
Thiamine pyrophosphate
Thiamine metabolism dysfunction syndrome 4
Functional study
Exome sequencing
Compound heterozygosity
Online Access:https://doi.org/10.1186/s13023-021-02028-4

Internet

https://doi.org/10.1186/s13023-021-02028-4

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