Biotin-Thiamine-Responsive Basal Ganglia Disease: A Case Report.

ABSTRACT:

Introduction

Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder characterized by diverse and variable phenotypic features, which can make diagnosis challenging. However, prompt treatment with thiamine and biotin can effectively manage the condition. Diagnosis relies on the identification of biallelic pathogenic variants in the SLC19A3 gene. This case report describes two novel variants of uncertain significance in the SLC19A3 gene, which may be correlated with the phenotypic manifestations of BTBGD.

Case presentation

Our case is a 7-month-old female infant who presented with a 3-week history of irritability, altered behavior, and refusal of newly introduced solid foods. Symptoms started with an upper r

SUBMITTER: Tse J 

PROVIDER: S-EPMC11781812 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature