OBJECTIVE To determine whether known loss-of-function alleles of the acidic α-glucosidase gene (GAA) are present in the Droughtmaster breed and, if so, whether the clinical signs and pathology of generalised glycogenosis (Pompe's disease) previously reported in other affected cattle are also seen in homozygous Droughtmasters. DESIGN Existing genomic and other diagnostic tests developed for ge...

CARM1 (co-activator-associated arginine methyltransferase 1)/PRMT4 (protein arginine methyltransferase 4), functions as a co-activator for transcription factors that are regulators of muscle fibre type and oxidative metabolism, including PGC (peroxisome-proliferator-activated receptor γ co-activator)-1α and MEF2 (myocyte enhancer factor 2). We observed significantly higher Prmt4 mRNA expression...

Introduction Pompe disease (OMIM #232300) or glycogen storage disease type II is an autosomal recessive lysosomal storage disease caused by mutations in the glucosidase alpha acid (GAA) gene. The acid alpha-glucosidase enzyme is required for the degradation of cellular glycogen, and its reduced activity results in accumulation of glycogen in muscle and cardiac tissues with variable clinical pre...

BACKGROUND Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing diabetes in these patients is unclear, and there are no guidelines for treatment. CASE PRESENTATION We...

Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous. Early and late onset phenotypes are distinguished. Insight in the molecular nature of the lysoso...

metabolic myopathies are genetically inherited disorders of muscle energy production that result in skeletal muscle dysfunction. they are a large group of diseases with diverse inborn errors of metabolism, in particular muscle energy production, and including disorders of glycogen (lysosomal and non-lysosomal glycogenoses), lipid (disorders of fatty acid b-oxidation, primary carnitine deficienc...