Limitations of galactose therapy in phosphoglucomutase 1 deficiency.

ABSTRACT:

Introduction

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.

Results

We report on a patient with a novel disease causing mutation, who was treated for 1.5 years with oral galactose supplementation. Initially, elevated transaminases were reduced and protein glycosylation of serum transferrin improved rapidly. Long-term surveillance however indicated limitations of galactose supplementation at the standard dose: 1 g per kg body weight per day did not achieve perm

SUBMITTER: Nolting K 

PROVIDER: S-EPMC5540825 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature