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Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene.
Hum Cell
September 2024
King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Article Synopsis
- BTBGD is a rare genetic disorder caused by mutations in the SLC19A3 gene, leading to severe neurological symptoms like confusion, seizures, and disabilities.
- Diagnosis is challenging due to the disease's rarity and varied symptoms, with current treatment involving thiamine and biotin supplementation, although long-term effectiveness is still unclear.
- Researchers have created induced pluripotent stem cell (iPSC) lines from a BTBGD patient, which can help study the disease's mechanisms and potentially lead to new treatments.
Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.
Int J Mol Sci
June 2024
Immunopeptide Chemistry Lab, Institute of Nuclear & Radiological Sciences & Technology, Energy & Safety, National Centre for Scientific Research "Demokritos", P.O. Box 60037, 153 10 Agia Paraskevi, Greece.
Biotin (vitamin B7, or vitamin H) is a water-soluble B-vitamin that functions as a cofactor for carboxylases, i.e., enzymes involved in the cellular metabolism of fatty acids and amino acids and in gluconeogenesis; moreover, as reported, biotin may be involved in gene regulation.
View Article and Find Full Text PDFEfficacy of high thiamine dosage in treating patients with biotin thiamine responsive basal ganglia disease: a two case reports.
Int J Neurosci
May 2024
Department of Pediatrics, King Fahad Hospital, AL Baha Region, Saudi Arabia.
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy. Patients with BTBGD have classical neuroimaging findings and a dramatic response to high doses of thiamine.
Objective: To highlight the advantages of administering a higher dose of thiamine for patients with BTBGD who have not shown improvement with the standard recommended dosage.
Developing of Biotin-Thiamine Responsive Basal Ganglia Disease after Accidental Ingestion of Ethyl Alcohol: A Case Report.
J Epilepsy Res
December 2023
Department of Radiology, Al Taif Children Hospital, Al Taif, Saudi Arabia.
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, inherited neurometabolic disorder caused by mutations in the gene and characterized by recurrent sub-acute episodes of encephalopathy that are often triggered by infections. Patients with BTBGD have classical neuroimaging findings and a dramatic response to high doses of thiamine. Herein, we report a 2 and a half-year-old Saudi girl presented with an acute onset of ataxia, slurred speech, and dysphagia, which was preceded by a history of accidental ingestion of around 20 mL of ethyl alcohol that is used in formulating perfumes 1 day earlier.
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