Figure 1. . Molecular pathogenesis of SLC39A8-CDG.

Figure 1.

Molecular pathogenesis of SLC39A8-CDG. Dysfunction of the manganese transporter SLC39A8 causes intracellular manganese depletion. (A) A reduced Mn2+ concentration in the Golgi apparatus impairs the function of manganese-dependent glycosylation enzymes. This results in abnormal, hypogalactosylated glycans. (B) Mitochondrial dysfunction is caused by manganese depletion of the mitochondrial superoxide dismutase MnSOD (manganese superoxide dismutase, SOD2). Bilateral T2-hyperintense lesions in the basal ganglia, similar to those seen in Leigh syndrome, are typically observed.

Reproduced from Park et al [2020]

From: SLC39A8-CDG

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