Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease
Neri et al., "Hepatocyte transplantation as a treatment for glycogen storage disease
type 1a," The Lancet, vol.
Glycogen storage diseases
: A brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment.
A recent series from India on 51 children ranging from 2 days to 12 years of age assessed pattern of metabolic liver disorders and found Wilson's disease 17 (33.3%) and glycogen storage disease
(GSD) to be most frequent.12 Timely picking-up of asymptomatic cases and genetic counselling of parents in these cases can help in early detection and control rising prevalence in the future.15 Frequency of chronic hepatitis is also variable and can range between 90% based on various studies.14,16-18 A study from Nigeria observed Schistosomiasis as the commonest cause of liver disease (37.5%) in tropical countries.19
 reported the presence of taurodontism of the primary dentition and craniofacial disproportion in the patients with glycogen storage disease
type III and explained this by the anomalies in the gene content of the X chromosome or less specific abnormalities in chromatinic material development.
Hermans et al., "Frequency of glycogen storage disease
type II in The Netherlands: implications for diagnosis and genetic counselling," European Journal of Human Genetics, vol.
Leslie, Glycogen Storage Disease
Type II(Pompe Disease), in GeneReviews, R.A.
Glycogen storage disease
type Ilia is an inherited metabolic disorder that interferes with the body's ability to release sugar from glycogen for energy, reads a press statement from the University of Manitoba.
We report a female patient with type Ia glycogen storage disease
Glycogen storage disease
(GSD) type 3 is an inborn error of glycogen metabolism resulting from the deficient activity of glycogen debranching enzyme.
Interestingly, this gene is also mutated in a hereditary liver disease called glycogen storage disease
Bengur et al., "Anaesthetic management of infants with glycogen storage disease
type II: a physiological approach," Paediatric Anaesthesia, vol.
In skeletal muscle, autophagy is required to maintain muscle mass and mitochondrial function ; impaired autophagy contributes to muscle atrophy in glycogen storage disease
Born with a type of glycogen storage disease
, Amy received a liver transplant at age five and a heart transplant when she was 27.
Glycogen structure and enzyme deficiencies in glycogen storage disease
. Harvey Lect.