Limitations of galactose therapy in phosphoglucomutase 1 deficiency.

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.

Retrospective analysis on thermal injuries in children-Demographic, etiological and clinical data of German and Austrian pediatric hospitals 2006-2015-Approaching the new German burn registry.

Objective: The purpose of this observational, multi-center study was to reveal epidemiologic, etiological and clinical aspects of hospitalized children with thermal injuries in Germany and Austria and the workup of a renewed web-based pediatric burn registry.

Methods: From 2006 to 2015, comprehensive patient data of thermally injured children in Germany and Austria were collected prospectively. Retrospective analysis of age, gender, mechanism of injury, total body surface area burned, way of admission and length of stay was performed, followed by the comparative analysis between designated burn centers and other pediatric hospitals.

News on Clinical Details and Treatment in PGM1-CDG.

Phosphoglucomutase 1 deficiency has recently been reported as a novel disease that belongs to two different classes of metabolic disorders, congenital disorders of glycosylation (CDG) and glycogen storage diseases.This paper focuses on previously reported siblings with short stature, hypothyroidism, increased transaminases, and, in one of them, dilated cardiomyopathy (DCM). An intronic point mutation in the PGM1-gene (c.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Background: Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.

Methods: Homozygosity mapping followed by whole-exome sequencing was used to identify a mutation in the gene for phosphoglucomutase 1 (PGM1) in two siblings.