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 degradation and progressive polyneuropathy with the onset of fever of unknown origin. The limited number of reported cases and lack of functional annotation of related gene variants continue to limit diagnosis.

Results

We report three cases of encephalopathy from two unrelated pedigrees with basal ganglia signal changes after fever of unknown origin. To distinguish this from other types of encephalopathy, such as acute necrotizing encephalopathy, exome sequencing was performed, and four novel hete

SUBMITTER: Chen Y 

PROVIDER: S-EPMC8480130 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature