INTRODUCTIONBiotin‐thiamine responsive basal ganglia disease (BTBGD), also known as thiamine transporter‐2 deficiency, or thiamine metabolism dysfunction syndrome 2 (OMIM #607483) is an autosomal recessive condition caused by biallelic mutations in SLC19A3. The disease was initially named biotin‐responsive basal ganglia disease, but once it was recognized that the culprit gene encodes a thiamine transporter and not a biotin transporter, its nomenclature was changed to BTBGD (Alfadhel et al., ). This inborn error of metabolism presents with neurologic dysfunction and associated bilateral basal ganglia lesions on brain imaging, both of which can worsen intermittently. The severity of the disease is quite variable, ranging from Leigh syndrome in infancy (Haack et al., ), to Wernicke's encephalopathy in later life (Kono et al., ). Since its initial description in 1998 (Ozand et al., ), there have been 116 affected individuals reported in the medical literature, and 21 mutations in SLC19A3 have been described so far. Here, we report a new patient with typical neurologic and brain imaging findings of BTBGD, and an additional pyruvate peak on brain magnetic resonance spectroscopy (MRS) at 2.4 ppm—present during an acute crisis, but absent at baseline. The patient was found to have a previously unreported homozygous mutation in
American Journal of Medical Genetics Part A – Wiley
Published: Jun 1, 2017
Keywords: ; ; ; ; ;
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