Hydroxychloroquine is available as the brand-name drug Plaquenil. Generic drugs usually cost less than the brand-name version. Hydroxychloroquine may be used as part of a combination therapy. Is plaquenil the same as hydroxychloroquine Hydrox chloroquine Plaquenil and prednisone for rheumatoid arthritis Pompe disease glycogen storage disease type II a or acid maltase deficiency is a lysosomal disorder in which acid α-glucosidase GAA deficiencies lead to intralysosomal accumulations of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was first described by Dr. J. C. Pompe in a 7-month-old girl with cardiomyopathy. Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs. Pompe disease causes muscle weakness and trouble breathing. It mostly affects the liver, heart, and muscles. Glycogen storage disease type 2, also known as Pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder. While glycogen storage disease type 2 is a single disease, it may be classified in 2 forms according to the rates of disease progression, its severity and the age at which symptoms start. The classic infantile. Hydroxychloroquine is used to treat lupus erythematosus and rheumatoid arthritis. It isn’t fully understood how this drug works to treat lupus erythematosus or rheumatoid arthritis. That means you may need to take it with other drugs. It treats malaria by killing the parasites that cause the disease. Pompe glycogen storage and hydroxychloroquine Glycogen storage disease - Wikipedia, Pompe Disease Symtoms, Causes, Treatments Chloroquine plus primaquine Among these are the hereditary primary lysosomal myopathies Pompe disease and Danon disease, infantile autophagic vacuolar myopathy, and the drug-induced vacuolar myopathies caused by treatment with chloroquine CQ or hydroxychloroquine. The best characterized of these is the lysosomal storage disorder, Pompe disease, also known as glycogen. Role of Autophagy in Glycogen Breakdown and Its. - PubMed Central PMC. Glycogen storage disease type 2 Genetic and Rare Diseases Information.. PDF POMPE DISEASE A RARE DISEASE OF GLYCOGEN STORAGE. Pompe disease glycogen storage disease type II a or acid maltase deficiency is a lysosomal disorder in which acid α-glucosidase GAA deficiencies lead to intralysosomal accumulations of glycogen in all tissues, most notably in skeletal muscles. Glycogen storage diseases GSDs are a heterogeneous group of inherited disorders caused by inborn errors of glycogen metabolism. These disorders most commonly affect the muscle and liver where glycogen is the most abundant. 1 For GSD I, secondary metabolic disturbances include fasting hyperlactatemia, hyperuricemia, and hyperlipidemia. Glycogen storage disease III is caused by reduced activity of the debrancher enzyme, GSD VI by phosphorylase, and GSD IX by phosphorylase kinase. Pompe disease, also known as type II glycogenosis, is a progressive autosomal recessive glycogen storage disease caused by deficiency of lysosomal acid alpha glucosidase GAA primarily in skeletal and cardiac muscle with age of onset ranging from infancy through adulthood.