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. Plaquenil pulmonary hypertension Chloroquine and hydroxychloroquine rheumatoid arthritis 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. Chloroquine CQ or hydroxychloroquine 4. The best charac-terized of these is the lysosomal storage disorder, Pompe disease, also known as glycogen storage disease type II. Pompe disease is caused by a mutation in the gene encoding acid a-glucosidase GAA, an enzyme that localizes to the lysosome, and hydrolyzes glycogen to glucose 5–7. 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. 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 NEWBORN SCREENING, Role of Autophagy in Glycogen Breakdown and Its Relevance. Wellbutrin and plaquenilBuy aralen chloroquine What is glycogen and glycogen storage disease GSD? The body’s cells need a steady supply of fuel in order to function the right way. This fuel is a simple sugar called glucose. Glucose comes from breaking down the food we eat. The body uses as much glucose as it needs to function and stores the rest to use later. Glycogen Storage Disease GSD - Cleveland Clinic. Lysosomal storage disorders affecting the heart a review - ScienceDirect. What is Pompe Disease. Chloroquine and hydroxychloroquine, commonly used for rheumatologic conditions, are rare yet very important causes of toxic myopathy with vacuolar changes on muscle biopsy. Pompe disease, a glycogenosis due to deficiency of lysosomal acid α-glucosidase GAA, may sometimes show similar yet less marked changes on muscle histopathology. Pearls. Chloroquine and hydroxychloroquine, commonly used for rheumatologic conditions, are rare yet very important causes of toxic myopathy with vacuolar changes on muscle biopsy. Pompe disease, a glycogenosis due to deficiency of lysosomal acid α-glucosidase GAA, may sometimes show similar yet less marked changes on muscle histopathology. An. 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.