Glycogen storage diseases
in animals and their potential value as models of human disease.
Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease
Sung et al., "Hepatocyte transplantation for glycogen storage disease
type Ib," Cell Transplantation, vol.
Examples of metabolic diseases with hepatic presentation are tyrosinemia, Wilson's disease, progressive familial intrahepatic cholestasis (PFIC), Aagenaes syndrome, glycogen storage disease
, non-alcoholic steatohepatitis (NASH)12-14.
Glycogen storage disease
was the most common metabolic disorder in 12(16.2%) patients and chronic hepatitis was the most frequent inflammatory disorder and was seen in 9(12.2%) (Table-2).
Pompe disease is an unique glycogen storage disease
with a lysosomal metabolism defect and autosomal recessive trait.
Pompe's disease (PD), or glycogen storage disease
type II (OMIM 232300) is an autosomal recessive disorder caused by a deficiency in the activity of the lysosomal enzyme acid alpha-glucosidase (GAA; EC.126.96.36.199), an enzyme that degrades lysosomal glycogen.
George Morrison, six, has rare glycogen storage disease
, which means his liver does not release glucose for vital energy.
DISCUSSION: Pompe disease, also known as glycogen storage disease
type II, is an inherited disorder whose primary symptom is progressive weakness in the muscles used for mobility and breathing.
Pulmonary hypertension with unclear multifactorial mechanisms 5.1 Haematological disorders: chronic haemolytic anaemia, myeloproliferative disease, splenectomy 5.2 Systemic disorders: sarcoidosis, pulmonary histiocytosis, lymphangioleiomyomatosis 5.3 Metabolic disorders: glycogen storage disease
, Gaucher's disease, thyroid disorders 5.4 Others: tumour obstruction, fibrosing mediastinitis, chronic renal failure, segmental pulmonary hypertension
A GENETIC MUTATION RESPONSIBLE FOR GLYCOGEN STORAGE disease
type Ilia has been identified in Inuit in northern Quebec by a team of Canadian and Japanese researchers.