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Biotin–thiamine‐responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by… Click to show full abstract
Biotin–thiamine‐responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neuroregression and death if untreated. Using biotin and thiamine at an early stage of the disease can lead to significant improvement.
Keywords:
saudi newborn;
sequencing 3000;
slc19a3 gene;
3000 saudi;
gene sequencing;
targeted slc19a3
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2019
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Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!