SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.
Francesco PortaBarbara SiriNicoletta ChiesaFederica RicciLulash NikaPaola SciortinoMarco SpadaPublished in: Journal of pediatric endocrinology & metabolism : JPEM (2020)
Non-Amish SLC25A19 deficiency is an extra-rare cause of Leigh syndrome responsive to thiamine treatment. Ex adiuvantibus thiamine treatment is mandatory in any patient with Leigh-like features.