Biomaterial Database

Congenital myopathy due to phosphorylase deficiency. 1983

F Cornelio, and N Bresolin, and S DiMauro, and M Mora, and M R Balestrini

A 4-year-old boy had delayed psychomotor development, proximal weakness, increased serum CK, and myopathic EMG. Muscle biopsy was normal, but histochemical stain for phosphorylase showed no reaction. The enzyme defect was confirmed biochemically and in studies of anaerobic glycolysis in vitro. Glycogen concentration was twice normal. Atypical presentations of myophosphorylase deficiency have included progressive weakness of late onset and fatal infantile myopathy. This patient represents another example of clinical heterogeneity.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
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
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