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A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.
Danon disease (GSD 2b, Danon disease, lysosomal glycogen storage disease without acid maltase deficiency) Symptoms of both GSD types IIa and IIb are very similar due to a defect in lysosomes. However, in type IIb, some show abnormal glycogen accumulation, but not all. Classic infantile form (Pompe disease): Cardiomyopathy and muscular hypotonia.
Glycogen storage disease type I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary to maintain adequate blood sugar levels. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment.
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Other congenital metabolic diseases; some of the common include Maple syrup urine disease and other organic acidurias; Type 1 glycogen storage disease; Type III glycogen storage disease. Can cause less severe hypoglycemia than type I; Phosphoenolpyruvate carboxykinase deficiency, causes metabolic acidosis and severe hypoglycemia.
Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. [1] Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy , skeletal muscle weakness, and intellectual disability. [ 2 ]
Glycogen storage disease type IX can be inherited via: [2] [4] X-linked recessive inheritance due to mutations at either PHKA1 or the PHKA2 (most common [ 5 ] ) gene Autosomal recessive could be the inheritance pattern for an affected individual when the genes PHKB or PHKG2 have a mutation .
When both parents are unaffected genetic carriers, then their children may develop APBD, may be unaffected carriers, or may be healthy children without the mutation.. APBD is an autosomal recessive disorder that is caused when a person inherits genes from both parents containing one or more loss-of-function mutations in the gene GBE1 which encodes for glycogen branching enzyme, also called 1,4 ...