Biomaterial Database

Congenital non-spherocytic haemolytic anaemia variants with primary and secondary pyruvate kinase deficiency. II. Enzymatic studies. 1979

M Gumińska, and M Wazewska-Czyzewska

Some metabolic effects associated with defective pyruvate kinase (PK) in two variants of congenital non-spherocytic haemolytic anaemia with primary PK and primary adenosine triphosphatase (ATP-ase) (Mg++) deficiency respectively we compared. In one patient with a low erythrocyte ATP level, decreased PK activity appeared together with the irreversible loss of its sensitivity to fructose-I,6-diphosphate (FDP), independently of the experimental conditions. In the second patient, the decrease in PK activity associated with an elevated erythrocyte ATP level was a secondary effect, due to primary ATP-ase (Mg++) deficiency. Removal of excessive amounts of ATP, by dialysis of haemolysates or their in-vitro treatment with ATP-ase, increased PK activity to the normal range and restored its sensitivity to the stimulatory effect of FDP. Similar effects could be obtained after i.v. administration of magnesium laevulinate. Under these in vivo conditions the ATP level was normalized after a transient rise ATP-ase activity, the PK activity increased and its sensitivity to FDP reappeared.

UI	MeSH Term	Description	Entries
D007275	Injections, Intravenous	Injections made into a vein for therapeutic or experimental purposes.	Intravenous Injections,Injection, Intravenous,Intravenous Injection
D007982	Levulinic Acids	Keto acids that are derivatives of 4-oxopentanoic acids (levulinic acid).	Acids, Levulinic
D008297	Male		Males
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
D003956	Dialysis	A process of selective diffusion through a membrane. It is usually used to separate low-molecular-weight solutes which diffuse through the membrane from the colloidal and high-molecular-weight solutes which do not. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)	Dialyses
D004912	Erythrocytes	Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.	Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005260	Female		Females
D005635	Fructosediphosphates	Diphosphoric acid esters of fructose. The fructose-1,6- diphosphate isomer is most prevalent. It is an important intermediate in the glycolysis process.
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000251	Adenosine Triphosphatases	A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.	ATPases,Adenosinetriphosphatase,ATPase,ATPase, DNA-Dependent,Adenosine Triphosphatase,DNA-Dependent ATPase,DNA-Dependent Adenosinetriphosphatases,ATPase, DNA Dependent,Adenosinetriphosphatases, DNA-Dependent,DNA Dependent ATPase,DNA Dependent Adenosinetriphosphatases,Triphosphatase, Adenosine