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Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants

Abstract Background Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with confusion, convulsions, dysphagia, dysarthria, or...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, Asma Al-Tawari, Dina Ramadan, Magdy Shafik, Omar Abdelaty, Nawal Makhseed, Reem Elshafie, Mariam Ayed, Abrar Hayat, Fatima Dashti, Dana Marafi, Buthaina Albash, Laila Bastaki, Hind Alsharhan
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2023-09-01
Schriftenreihe:Orphanet Journal of Rare Diseases
Schlagworte:
Biotin-thiamine-responsive
Basal ganglia
SLC19A3
Neurometabolic
Encephalopathy
Genetic
Online-Zugang:https://doi.org/10.1186/s13023-023-02888-y
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