Biomaterial Database

[McArdle's disease: a case report]. 1980

J A Levy, and S M Gagioti, and M J Cavalieri, and J R Pereira

This disease was described by McArdle as an inherited autosomal recessive affection characterized by glycogen storage with normal chain in the skeletal muscles, due to absence of myophosphorylase activity. Under a clinical aspect, excessive fatigability, cramps and myoglobinuria appear following physical exercise. A case of this disease in a 36-year-old male patient is reported. Failure of elevation of venous blood lactate after physical effort under anaerobic conditions, as well as muscle histochemistry, made diagnosis confirmation possible. The authors comment on the differential diagnosis between McArdle's disease and the other causes of myoglobinuria, specially phosphofructokinase and carnitine-palmityl-transferase deficiency.

UI	MeSH Term	Description	Entries
D007773	Lactates	Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.
D008297	Male		Males
D009132	Muscles	Contractile tissue that produces movement in animals.	Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009212	Myoglobinuria	The presence of MYOGLOBIN in URINE usually as a result of rhabdomyolysis.	Myoglobinurias
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006008	Glycogen Storage Disease	A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.	Glycogenosis,Disease, Glycogen Storage,Diseases, Glycogen Storage,Glycogen Storage Diseases,Glycogenoses,Storage Disease, Glycogen,Storage Diseases, Glycogen
D006012	Glycogen Storage Disease Type V	Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.	Glycogenosis 5,McArdle's Disease,Deficiency, Muscle Phosphorylase,Glycogen Storage Disease Type 5,Glycogen Storage Disease V,McArdle Disease,McArdle Type Glycogen Storage Disease,Mcardle Syndrome,Muscle Glycogen Phosphorylase Deficiency,Muscle Phosphorylase Deficiency,Myophosphorylase deficiency,PYGM Deficiency,Deficiencies, Muscle Phosphorylase,Deficiencies, PYGM,Deficiency, PYGM,Disease, McArdle,Disease, McArdle's,Glycogenosis 5s,McArdles Disease,Mcardle Syndromes,Muscle Phosphorylase Deficiencies,Myophosphorylase deficiencies,PYGM Deficiencies,Phosphorylase Deficiencies, Muscle,Phosphorylase Deficiency, Muscle,Syndrome, Mcardle,Syndromes, Mcardle,deficiencies, Myophosphorylase,deficiency, Myophosphorylase
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults