A syndrome of Golgi Dysfunction

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I am quite used to thinking of only the mitochondria in terms of Mendelian Disorders of organelle dysfunction, which is my own bias because of the majority of the patients I see. However, I was very interested to read a recent article published by Schmidt et al (AJHG (2015)97, 855-861) in which they describe an inherited disease of Golgi integrity caused by mutations in the SCYL1 gene.

This is an autosomal recessive disorder characterized by recurrent liver failure, neuropathy, and cerebellar atrophy. Interestingly, the recurrent episodes of liver failure in affected patients were generally precipitated by fevers.

Hilary Vernon, MD PhD

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