Three patients with glycosylation deficiencies, chronically elevated transaminases, and low serum ceruloplasmin and copper, caused by mutations in the gene encoding the transmembrane protein TMEM199

Abstract

Background: A decade ago we reported on four children with glycosylation deficiencies and a liver disease mimicking Wilson-disease, but without known genetic cause. Two (patients #1 and #2) were later diagnosed with phosphoglucomutase-1 deficiency.