Biomaterial Database

Ultrastructural and histochemical abnormalities of skeletal muscle in a patient with a new variant (type Homburg) of glucosephosphate isomerase (GPI) deficiency. 1985

A Bardosi, and S W Eber, and U Roessmann

Ultrastructural and enzyme histochemical muscle abnormalities are described in a case with a new variant (type Homburg) of glucosephosphate isomerase (GPI) deficiency, associated with congenital nonspherocytic hemolytic anemia and muscle weakness. The enzyme is thermostable in contrast to other described variants. The muscle fibers showed decreased GPI activity, ultrastructural abnormalities, including giant mitochondria, and a diffuse increase of glycogen. The functional alteration of muscle tissue is due to a stable enzyme protein with decreased specific activity.

UI	MeSH Term	Description	Entries
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
D005956	Glucose-6-Phosphate Isomerase	An aldose-ketose isomerase that catalyzes the reversible interconversion of glucose 6-phosphate and fructose 6-phosphate. In prokaryotic and eukaryotic organisms it plays an essential role in glycolytic and gluconeogenic pathways. In mammalian systems the enzyme is found in the cytoplasm and as a secreted protein. This secreted form of glucose-6-phosphate isomerase has been referred to as autocrine motility factor or neuroleukin, and acts as a cytokine which binds to the AUTOCRINE MOTILITY FACTOR RECEPTOR. Deficiency of the enzyme in humans is an autosomal recessive trait, which results in CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA.	Glucosephosphate Isomerase,Phosphoglucose Isomerase,Phosphohexose Isomerase,Autocrine Motility Factor,Isomerase, Glucose 6 Phosphate,Neuroleukin,Tumor Autocrine Motility Factor,Tumor-Cell Autocrine Motility Factor,Factor, Autocrine Motility,Glucose 6 Phosphate Isomerase,Isomerase, Glucose-6-Phosphate,Isomerase, Glucosephosphate,Isomerase, Phosphoglucose,Isomerase, Phosphohexose,Motility Factor, Autocrine,Tumor Cell Autocrine Motility Factor
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
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
D000746	Anemia, Hemolytic, Congenital Nonspherocytic	Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.	Anemia, Congenital Nonspherocytic Hemolytic,Anemia, Hemolytic Congenital, Nonspherocytic,Congenital Nonspherocytic Hemolytic Anemia,Hemolytic Anemia, Congenital Nonspherocytic
D001706	Biopsy	Removal and pathologic examination of specimens from the living body.	Biopsies