Biomaterial Database

Biochemical, immunological, and cell genetic studies in glycogenosis type II. 1978

A J Reuser, and J F Koster, and A Hoogeveen, and H Galjaard

Fibroblasts from patients with the adult, juvenile, and infantile form of glycogenosis type II (Pompe disease) were cultured under standardized conditions, and the activity of acid alpha-glucosidase (E.C.3.2.1.20) towards glycogen, maltose, and 4-methylumbelliferyl-alpha-D-glucopyranoside was measured. Glycogen levels in muscle biopsies and in cultured fibroblasts from patients were determined. Residual enzyme activities varying from 7%-22% were detected in fibroblasts from patients with the adult form but not from patients with the infantile form of glycogenosis II. An inverse correlation was found between the severity of the clinical manifestation and the degree of residual enzyme activity in the fibroblasts. The kinetic and electrophoretic properties of acid alpha-glucosidase in fibroblasts from the adult patients and from control individuals were similar. Immunological studies suggested that the decrease of acid alpha-glucosidase activity is caused by a mutation that affects the production or degradation of the enzyme rather than its catalytic activity. Complementation studies were carried out by fusing fibroblasts from patients with the adult, juvenile, and infantile form of glycogenosis II, but neither conventional assays on multikaryons nor enzyme assays on single binuclear heterokaryons gave any evidence for genetic heterogeneity among these forms.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007700	Kinetics	The rate dynamics in chemical or physical systems.
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D002478	Cells, Cultured	Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.	Cultured Cells,Cell, Cultured,Cultured Cell
D005959	Glucosidases	Enzymes that hydrolyze O-glucosyl-compounds. (Enzyme Nomenclature, 1992) EC 3.2.1.-.	Glucosidase
D006003	Glycogen
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
D006009	Glycogen Storage Disease Type II	An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)	Acid Maltase Deficiency Disease,Generalized Glycogenosis,Glycogenosis 2,Lysosomal alpha-1,4-Glucosidase Deficiency Disease,Pompe Disease,Acid Alpha-Glucosidase Deficiency,Acid Maltase Deficiency,Adult Glycogen Storage Disease Type II,Alpha-1,4-Glucosidase Deficiency,Deficiency Disease, Acid Maltase,Deficiency Disease, Lysosomal alpha-1,4-Glucosidase,Deficiency of Alpha-Glucosidase,GAA Deficiency,GSD II,GSD2,Glycogen Storage Disease II,Glycogen Storage Disease Type 2,Glycogen Storage Disease Type II, Adult,Glycogen Storage Disease Type II, Infantile,Glycogen Storage Disease Type II, Juvenile,Glycogenosis Type II,Infantile Glycogen Storage Disease Type II,Juvenile Glycogen Storage Disease Type II,Pompe's Disease,Acid Alpha Glucosidase Deficiency,Acid Alpha-Glucosidase Deficiencies,Acid Maltase Deficiencies,Alpha 1,4 Glucosidase Deficiency,Alpha-1,4-Glucosidase Deficiencies,Alpha-Glucosidase Deficiencies,Alpha-Glucosidase Deficiencies, Acid,Alpha-Glucosidase Deficiency,Alpha-Glucosidase Deficiency, Acid,Deficiencies, Acid Alpha-Glucosidase,Deficiencies, Acid Maltase,Deficiencies, Alpha-1,4-Glucosidase,Deficiencies, GAA,Deficiency of Alpha Glucosidase,Deficiency, Acid Alpha-Glucosidase,Deficiency, Acid Maltase,Deficiency, Alpha-1,4-Glucosidase,Deficiency, GAA,Disease, Pompe,Disease, Pompe's,GAA Deficiencies,GSD2s,Generalized Glycogenoses,Glycogenoses, Generalized,Glycogenosis, Generalized,Lysosomal alpha 1,4 Glucosidase Deficiency Disease,Maltase Deficiencies, Acid,Pompes Disease,Type II, Glycogenosis,Type IIs, Glycogenosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths