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

Maryam AburezqAhmad AlahmadRasha AlsafiAsma Al-TawariDina RamadanMagdy ShafikOmar AbdelatyNawal MakhseedReem ElshafieMariam AyedAbrar HayatFatima DashtiDana MarafiButhaina AlbashLaila BastakiHind Alsharhan

Published in: Orphanet journal of rare diseases (2023)

This is the first study reporting the phenotypic and genotypic spectrum of 21 individuals with BTBGD in Kuwait and describing two novel SLC19A3 variants. BTBGD is a treatable neurometabolic disease that requires early recognition and treatment initiation. This study highlights the importance of performing targeted molecular testing of the founder variant in patients presenting with acute encephalopathy in the region.

Keyphrases

copy number
cancer therapy
emergency department
drug delivery
dna methylation
extracorporeal membrane oxygenation
replacement therapy
acute respiratory distress syndrome