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Article

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

Journal of pediatric endocrinology & metabolism : JPEM - 23 Feb 2021

Porta Francesco, Siri Barbara, Chiesa Nicoletta, Ricci Federica, Nika Lulash, Sciortino Paola, Spada Marco

Abstract excerpt

OBJECTIVES: 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 > 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 > A, c.580T > C, c.910G > A, c.869T > A, c.576G > C), is...

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PMID: 33544541
DOI: 10.1515/jpem-2020-0139

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