Unresponsiveness to Vitamin Therapy in Twins with Early Onset Biotin-Thiamine Responsive Encephalopathy Type 2 Caused by Biallelic Truncating Variant in SLC19A3 Gene

Authors

Siddaramappa J. Patil, Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, IndiaFollow
Minal Kekatpure, Department of Neurology. Division of Pediatric Neurology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India
Venkatraman Bhat, Department of Radiology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India
Harini Sreedaran, Department of Pediatrics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India
Rajiv Aggarwal, Department of Pediatrics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India

Abstract

Biotin-thiamine responsive encephalopathy type 2 (BTBGD) is caused by biallelic pathogenic variants in SLC19A3 (solute carrier family 19). Among three clinical phenotypes of BTBGD (early infantile onset, classical and adult onset) early infantile form of BTBGD is associated with poor prognosis. Here in we report twins with BTBGD early onset infantile Leigh syndrome phenotype unresponsive to thiamine and biotin therapy, progressive neuroimaging changes and early death. Both twins carried biallelic truncating novel c.307dupG / p.Val103fs*121 variant in SLC19A3 gene and we discuss reasons of unresponsiveness.

Recommended Citation

Patil, Siddaramappa J.; Kekatpure, Minal; Bhat, Venkatraman; Sreedaran, Harini; and Aggarwal, Rajiv (2025) "Unresponsiveness to Vitamin Therapy in Twins with Early Onset Biotin-Thiamine Responsive Encephalopathy Type 2 Caused by Biallelic Truncating Variant in SLC19A3 Gene," Journal of Pediatric Genetics: Vol. 14: Iss. 2, Article 7.
DOI: https://doi.org/10.53391/2146-460X.1017
Available at: https://jpg.researchcommons.org/journal/vol14/iss2/7