Article
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.
Orphanet journal of rare diseases - 10 Jan 2018
Vajro Pietro, Zielinska Katarzyna, Ng Bobby G, Maccarana Marco, Bengtson Per, Poeta Marco, Mandato Claudia, D'Acunto Elisa, Freeze Hudson H, Eklund Erik A
Abstract excerpt
BACKGROUND: TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no information on the long-term outcome in this disorder. RESULTS: We here present three novel patients with TMEM199-CDG. All three patients carried the same set of mutations (c.13-14delTT...
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