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Biallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. Homozygosity for the c.530G &gt; C mutation is invariably associated to Amish lethal microcephaly. The second phenotype, reported only in 8 patients homozygous for different non-Amish mutations (c.373G &gt; A, c.580T &gt; C, c.910G &gt; A, c.869T &gt; A, c.576G &gt; C), is characterized by bilateral striatal necrosis and peripheral polyneuropathy. We report a new patient with the non-Amish SLC25A19 phenotype showing compound heterozygosity for the new variant c.673G &gt; A and the known mutation c.373G &gt; A.

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature