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

Mov Disord Clin Pract. 2024 Oct;11(10):1291-1294. doi: 10.1002/mdc3.14154. Epub 2024 Jun 28.

Authors

Baikuntha Panigrahi¹, Divya M Radhakrishnan¹, Ayush Agarwal¹, Roopa Rajan¹, Divyani Garg¹, Animesh Das¹, Awadh Kishor Pandit¹, Achal K Srivastava¹

Affiliation

¹ Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

PMID: 38943247
PMCID: PMC11489617 (available on 2025-06-28)
DOI: 10.1002/mdc3.14154

No abstract available

Keywords: BTD; Biotinidase deficiency; cognitive impairment; juvenile parkinsonism; leukoencephalopathy; levodopa responsive parkinsonism.

Publication types

Letter