Biomaterial Database

Myophosphorylase deficiency: an unusually severe form with myoglobinuria. 1994

K Kristjánsson, and S Tsujino, and S DiMauro

Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas.

Myophosphorylase deficiency (McArdle disease) is characterized by exercise intolerance that usually starts in childhood. Severe cramps and myoglobinuria are rarely problems in children. We describe an 8-year-old boy with exercise-induced myoglobinuria; he was homozygous for the mutation most commonly encountered in patients with typical McArdle disease.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009135	Muscular Diseases	Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.	Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D009212	Myoglobinuria	The presence of MYOGLOBIN in URINE usually as a result of rhabdomyolysis.	Myoglobinurias
D010146	Pain	An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.	Suffering, Physical,Ache,Pain, Burning,Pain, Crushing,Pain, Migratory,Pain, Radiating,Pain, Splitting,Aches,Burning Pain,Burning Pains,Crushing Pain,Crushing Pains,Migratory Pain,Migratory Pains,Pains, Burning,Pains, Crushing,Pains, Migratory,Pains, Radiating,Pains, Splitting,Physical Suffering,Physical Sufferings,Radiating Pain,Radiating Pains,Splitting Pain,Splitting Pains,Sufferings, Physical
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005082	Physical Exertion	Expenditure of energy during PHYSICAL ACTIVITY. Intensity of exertion may be measured by rate of OXYGEN CONSUMPTION; HEAT produced, or HEART RATE. Perceived exertion, a psychological measure of exertion, is included.	Physical Effort,Effort, Physical,Efforts, Physical,Exertion, Physical,Exertions, Physical,Physical Efforts,Physical Exertions
D006005	Phosphorylases	A class of glucosyltransferases that catalyzes the degradation of storage polysaccharides, such as glucose polymers, by phosphorolysis in animals (GLYCOGEN PHOSPHORYLASE) and in plants (STARCH PHOSPHORYLASE).	Glucan Phosphorylase,Phosphorylase,alpha-Glucan Phosphorylases
D006720	Homozygote	An individual in which both alleles at a given locus are identical.	Homozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man