TLDR ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
In the follow-up study of ATP6AP1‐CDG, researchers observed three siblings with progressive symptoms including total hearing loss, progressive hair loss leading to alopecia, and chestnut skin, with some developing proteinuria. Additionally, three female carriers exhibited normal serum transferrin isoelectrofocusing, but two had persistent proteinuria. This study expanded on previous findings by highlighting the progression of symptoms and the presence of proteinuria in female carriers.
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April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
92 citations
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