Glycogen storage disease type V is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase, the muscle isoform of the enzyme glycogen phosphorylase. This enzyme helps break down glycogen (a form of stored carbohydrate) into glucose so that it can be utilized within the muscle cell. Jump to: navigation, search The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. ... Glycogen storage disease is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. ... In biology, a protein isoform is a version of a protein with some small differences, usually a splice variant or the product of some posttranslational modification. ... Jump to: navigation, search Ribbon diagram of the catalytically perfect enzyme TIM. Factor D enzyme crystal prevents the immune system from inappropriately running out of control. ... Glycogen phosphorylase is the enzyme necessary to break up glycogen into glucose subunits. ... Jump to: navigation, search Glycogen is a polysaccharide that is the principal storage form of glucose in animal cells. ... Jump to: navigation, search Carbohydrates (literally hydrates of carbon) are chemical compounds that consist of monosaccharide sugars of varying chain lengths and that have the general chemical formula Cm(H2O)n or are derivatives of such. ... Jump to: navigation, search Glucose (Glc), a simple monosaccharide sugar, is one of the most important carbohydrates and is used as a source of energy in animals and plants. ... Structure of a skeletal muscle Muscle is one of the four tissue types. ...

GSD type V is also known as McArdle's disease or muscle phosphorylase deficiency.

People with this disease experience difficulty when their muscles are called upon to perform relatively brief yet intense activity. The inability to break down glycogen into glucose results in an energy shortage within the muscle, resulting in muscle pain and cramping, and sometimes causing serious injury to the muscles. In addition, rhabdomyolysis—the breakdown of muscle tissue—can cause myoglobinuria, a red-to-brown-colored urine. The myoglobinuria can cause kidney damage. The disease is hereditary and is inherited as an autosomal recessive trait. A cramp is an unpleasant sensation caused by contraction, usually of a muscle. ... Rhabdomyolysis is the breakdown of skeletal muscle due to injury. ... Myoglobinuria is the presence of myoglobin in the urine, usually associated to rhabdomyolysis or muscle destruction. ... Urine is liquid waste excreted by the kidneys and eventually expelled from the body in a process known as urination. ... Jump to: navigation, search Human kidneys viewed from behind with spine removed The kidneys are bean-shaped excretory organs in vertebrates. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...