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Wesół-Kucharska D, Greczan M, Kaczor M, et al. Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis. Mol Genet Metab Rep. 2021;29:100801doi: 10.1016/j.ymgmr.2021.100801.
Wesół-Kucharska, D., Greczan, M., Kaczor, M., Pajdowska, M., Piekutowska-Abramczuk, D., Ciara, E., Halat-Wolska, P., Kowalski, P., Jurkiewicz, E., & Rokicki, D. (2021). Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis. Molecular genetics and metabolism reports, 29100801. https://doi.org/10.1016/j.ymgmr.2021.100801
Wesół-Kucharska, Dorota, et al. "Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis." Molecular genetics and metabolism reports vol. 29 (2021): 100801. doi: https://doi.org/10.1016/j.ymgmr.2021.100801
Wesół-Kucharska D, Greczan M, Kaczor M, Pajdowska M, Piekutowska-Abramczuk D, Ciara E, Halat-Wolska P, Kowalski P, Jurkiewicz E, Rokicki D. Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis. Mol Genet Metab Rep. 2021 Sep 29;29:100801. doi: 10.1016/j.ymgmr.2021.100801. eCollection 2021 Dec. PMID: 34631424; PMCID: PMC8488057.
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Mol Genet Metab Rep. 2021 Sep 29;29:100801. doi: 10.1016/j.ymgmr.2021.100801. eCollection 2021 Dec.

Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.

Molecular genetics and metabolism reports

Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Magdalena Pajdowska, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Paulina Halat-Wolska, Paweł Kowalski, Elżbieta Jurkiewicz, Dariusz Rokicki

Affiliations

  1. Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
  2. Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland.
  3. Department of Medical Genetics, The Children's Memorial Health Institute, Poland.
  4. Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.

PMID: 34631424 PMCID: PMC8488057 DOI: 10.1016/j.ymgmr.2021.100801

Abstract

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in

METHOD: A retrospective review of clinical characteristics, magnetic resonance imaging and molecular findings in 3 patients with BTBGD.

RESULTS: The first symptoms in all patients occurred at 12-24 months of age and they had subacute encephalopathy, ataxia and dystonia. The baseline magnetic resonance imaging demonstrated abnormal signal intensity in the basal ganglia with atrophy and necrosis of the basal ganglia during follow-up in two patients. One patient was diagnosed and the treatment was initiated after a long period from symptoms onset and he is currently severely affected, with dystonia, quadriparesis and seizures. The other two patients were diagnosed early in life and are currently stable on treatment, without the clinical symptoms. Genetic testing demonstrated pathogenic variants in

CONCLUSION: To avoid diagnostic errors and delayed or incorrect treatment, BTBGD must be recognized early. Adequate prompt treatment gives the chance of significant clinical improvement. Unexplained encephalopathy and MRI abnormalities including bilateral abnormal signal in the basal ganglia should alert the clinician to consider BTBGD in the differential, and the treatment with biotin and thiamine should be introduced immediately.

© 2021 The Authors.

Keywords: BTBGD; Biotin; SLC19A3; Second thiamine-transporter; Thiamine; hThTr2

Conflict of interest statement

All authors have no conflicts of interest to disclose.

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