BIOMAT Database Logo BIOMAT Database Logo

Lysosomal glycogen storage disease with normal acid maltase. 1981

M J Danon, and S J Oh, and S DiMauro, and J R Manaligod, and A Eastwood, and S Naidu, and L H Schliselfeld

Two unrelated 16-year-old boys had mental retardation, cardiomegaly, and proximal myopathy. One also had hepatomegaly. Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency. Biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid alpha-glucosidase activity in both urine and muscle was normal. Other enzymes of glycogen metabolism were also normal. The cause of this apparently generalized glycogenosis with no demonstrable enzyme defect is unknown.

UI MeSH Term Description Entries
D008247 Lysosomes A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured or undergoes MEMBRANE FUSION. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed). Autolysosome,Autolysosomes,Lysosome
D008297 Male Males
D008854 Microscopy, Electron Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen. Electron Microscopy
D009132 Muscles Contractile tissue that produces movement in animals. Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009246 NADH Tetrazolium Reductase Catalyzes the reduction of tetrazolium compounds in the presence of NADH. NAD(P)H Nitroblue Tetrazolium Reductase,NADH2 Tetrazolium Reductase,Reductase, NADH Tetrazolium,Reductase, NADH2 Tetrazolium,Tetrazolium Reductase, NADH,Tetrazolium Reductase, NADH2
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
D006651 Histocytochemistry Study of intracellular distribution of chemicals, reaction sites, enzymes, etc., by means of staining reactions, radioactive isotope uptake, selective metal distribution in electron microscopy, or other methods. Cytochemistry
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000135 Acid Phosphatase An enzyme that catalyzes the conversion of an orthophosphoric monoester and water to an alcohol and orthophosphate. EC 3.1.3.2. Acid beta-Glycerophosphatase,Acid beta Glycerophosphatase

Related Publications

M J Danon, and S J Oh, and S DiMauro, and J R Manaligod, and A Eastwood, and S Naidu, and L H Schliselfeld
Early-onset lysosomal glycogen storage disease with normal acid maltase.
August 2001, Journal of inherited metabolic disease,
M J Danon, and S J Oh, and S DiMauro, and J R Manaligod, and A Eastwood, and S Naidu, and L H Schliselfeld
[A patient with lysosomal glycogen storage disease with normal acid maltase].
September 1993, No to hattatsu = Brain and development,
M J Danon, and S J Oh, and S DiMauro, and J R Manaligod, and A Eastwood, and S Naidu, and L H Schliselfeld
Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome.
October 1998, Journal of the neurological sciences,
M J Danon, and S J Oh, and S DiMauro, and J R Manaligod, and A Eastwood, and S Naidu, and L H Schliselfeld
[Lysosomal glycogen storage disease without acid maltase deficiency].
December 1995, Nihon rinsho. Japanese journal of clinical medicine,
M J Danon, and S J Oh, and S DiMauro, and J R Manaligod, and A Eastwood, and S Naidu, and L H Schliselfeld
Lysosomal glycogen storage disease without acid maltase deficiency.
July 1983, Neurology,
M J Danon, and S J Oh, and S DiMauro, and J R Manaligod, and A Eastwood, and S Naidu, and L H Schliselfeld
[Hepatic involvement in a case of lysosomal glycogen storage disease with normal acid maltase].
July 1999, Rinsho shinkeigaku = Clinical neurology,
M J Danon, and S J Oh, and S DiMauro, and J R Manaligod, and A Eastwood, and S Naidu, and L H Schliselfeld
[Lysosomal glycogen storage disease without acid maltase deficiency(Danon disease)].
January 2000, Ryoikibetsu shokogun shirizu,
M J Danon, and S J Oh, and S DiMauro, and J R Manaligod, and A Eastwood, and S Naidu, and L H Schliselfeld
[Lysosomal glycogen storage disease without acid maltase deficiency (Danon's disease)].
January 1998, Ryoikibetsu shokogun shirizu,
M J Danon, and S J Oh, and S DiMauro, and J R Manaligod, and A Eastwood, and S Naidu, and L H Schliselfeld
[Lysosomal glycogen storage disease with normal acid maltase (Danon) without apparent cardiomyopathy and mental retardation].
March 2000, Rinsho shinkeigaku = Clinical neurology,
M J Danon, and S J Oh, and S DiMauro, and J R Manaligod, and A Eastwood, and S Naidu, and L H Schliselfeld
Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.
June 1986, Brain : a journal of neurology,
Copied contents to your clipboard!