Ontology highlight
ABSTRACT:
SUBMITTER: Nolting K
PROVIDER: S-EPMC5540825 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Nolting Kristine K Park Julien H JH Tegtmeyer Laura C LC Zühlsdorf Andrea A Grüneberg Marianne M Rust Stephan S Reunert Janine J Du Chesne Ingrid I Debus Volker V Schulze-Bahr Eric E Baxter Robert C RC Wada Yoshinao Y Thiel Christian C van Schaftingen Emile E Fingerhut Ralph R Marquardt Thorsten T
Molecular genetics and metabolism reports 20170731
<h4>Introduction</h4>Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and growth retardation. Oral galactose supplementation at a dosage of 1 g per kg body weight per day is regarded as the therapy of choice.<h4>Results</h4>We report on a patient with a novel disease causing mutation, who was treated for 1.5 years with ...[more]