Juvenile Parkinsonism and Cognitive Impairment in a Patient with Compound Heterozygous Variants in the BTD Gene‐ an Unusual Presentation of Biotinidase Deficiency.

This article presents a case study of a 23-year-old male with a rare genetic condition called biotinidase deficiency, which manifested as parkinsonism. The patient experienced symptoms such as stiffness, tremors, and delayed motor and language development. Genetic testing revealed specific variants in the BTD gene, which are considered pathogenic. Treatment with biotin supplementation and dopaminergic therapy showed some improvement in motor symptoms but not in cognitive functions. The article emphasizes the importance of early diagnosis and treatment for better outcomes in biotinidase deficiency cases. It also suggests considering this condition when evaluating juvenile parkinsonism, especially if there are other clinical features present. [Extracted from the article]