ATP6AP1-CDG: Follow-Up and Female Phenotype

April 2020 in “ JIMD Reports ”

Patryk Lipiński, Dariusz Rokicki, Anna Bogdańska, Justyna Lesiak, Dirk J. Lefeber, Anna Tylki‐Szymańska

ATP6AP1‐CDG alopecia proteinuria transferrin isoelectrofocusing

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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research ATP6AP1-CDG: Follow-Up and Female Phenotype

7 citations, April 2020 in “JIMD Reports”

ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.

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