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Wang et al., 2020b

Molecular Biology of Primary Carnitine Deficiency The SLC22A5 (OCTN2) gene is located on chromosome 5q31.1 and is composed of 11 exons that generate two alternatively spliced mRNAs encoding proteins of 581 amino acids (isoform a) and 557 amino acids (isoform b)

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[9] Visual disturbances have been reported in patients with Leber hereditary optic neuropathy, and rapid B12 administration may precipitate optic nerve atrophy in this genetically predisposed population, mandating extreme caution or alternative therapy

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