Biomaterial Database

[HEREDITARY HEMOLYTIC ANEMIA WITH PYRUVATE-KINASE DEFICIENCY]. 1964

J MALLARME, and P BOIVIN

UI	MeSH Term	Description	Entries
D010770	Phosphotransferases	A rather large group of enzymes comprising not only those transferring phosphate but also diphosphate, nucleotidyl residues, and others. These have also been subdivided according to the acceptor group. (From Enzyme Nomenclature, 1992) EC 2.7.	Kinases,Phosphotransferase,Phosphotransferases, ATP,Transphosphorylase,Transphosphorylases,Kinase,ATP Phosphotransferases
D011770	Pyruvate Kinase	ATP:pyruvate 2-O-phosphotransferase. A phosphotransferase that catalyzes reversibly the phosphorylation of pyruvate to phosphoenolpyruvate in the presence of ATP. It has four isozymes (L, R, M1, and M2). Deficiency of the enzyme results in hemolytic anemia. EC 2.7.1.40.	L-Type Pyruvate Kinase,M-Type Pyruvate Kinase,M1-Type Pyruvate Kinase,M2-Type Pyruvate Kinase,Pyruvate Kinase L,R-Type Pyruvate Kinase,L Type Pyruvate Kinase,M Type Pyruvate Kinase,M1 Type Pyruvate Kinase,M2 Type Pyruvate Kinase,Pyruvate Kinase, L-Type,Pyruvate Kinase, M-Type,Pyruvate Kinase, M1-Type,Pyruvate Kinase, M2-Type,Pyruvate Kinase, R-Type,R Type Pyruvate Kinase
D011773	Pyruvates	Derivatives of PYRUVIC ACID, including its salts and esters.
D004796	Clinical Enzyme Tests	Analyses for a specific enzyme activity, or of the level of a specific enzyme that is used to assess health and disease risk, for early detection of disease or disease prediction, diagnosis, and change in disease status.	Enzyme Tests, Clinical,Clinical Enzyme Test,Enzyme Test, Clinical,Test, Clinical Enzyme,Tests, Clinical Enzyme
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000740	Anemia	A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.	Anemias
D000743	Anemia, Hemolytic	A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).	Anemia, Hemolytic, Acquired,Anemia, Microangiopathic,Haemolytic Anaemia,Hemolytic Anemia,Hemolytic Anemia, Acquired,Microangiopathic Hemolytic Anemia,Acquired Hemolytic Anemia,Anaemia, Haemolytic,Anemia, Acquired Hemolytic,Anemia, Microangiopathic Hemolytic,Haemolytic Anaemias,Hemolytic Anemia, Microangiopathic,Microangiopathic Anemia,Microangiopathic Hemolytic Anemias
D000745	Anemia, Hemolytic, Congenital	Hemolytic anemia due to various intrinsic defects of the erythrocyte.	Anemia, Hemolytic, Hereditary,Congenital Hemolytic Anemia,Hemolytic Anemia, Congenital,Hemolytic Anemia, Hereditary,Hereditary Hemolytic Anemia,Anemia, Congenital Hemolytic,Anemia, Hereditary Hemolytic,Anemias, Congenital Hemolytic,Anemias, Hereditary Hemolytic,Congenital Hemolytic Anemias,Hemolytic Anemias, Congenital,Hemolytic Anemias, Hereditary,Hereditary Hemolytic Anemias
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
D013103	Spherocytosis, Hereditary	A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.	Hereditary Spherocytoses,Spherocytoses, Hereditary