Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?
نویسندگان
چکیده
منابع مشابه
Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?
Adenylate kinase (AK) modulates the interconversion of adenine nucleotides (AMP + adenosine triphosphate----2 ADP). We evaluated the fifth kindred with hereditary erythrocyte (RBC) AK deficiency. The proband had chronic hemolytic anemia. Her RBC had undetectable AK activity when measured spectrophotometrically, whereas those of her parents had half-normal AK activity. AK electrophoresis showed ...
متن کاملAdenylate kinase complements nucleoside diphosphate kinase deficiency in nucleotide metabolism.
Nucleoside diphosphate (NDP) kinase is a ubiquitous nonspecific enzyme that evidently is designed to catalyze in vivo ATP-dependent synthesis of ribo- and deoxyribonucleoside triphosphates from the corresponding diphosphates. Because Escherichia coli contains only one copy of ndk, the structural gene for this enzyme, we were surprised to find that ndk disruption yields bacteria that are still v...
متن کاملErythrocyte pyruvate kinase deficiency: 2015 status report
Over the last several decades, our understanding of the genetic variation, pathophysiology, and complications of the hemolytic anemia associated with red cell pyruvate kinase deficiency (PKD) has expanded. Nonetheless, there remain significant gaps in our knowledge with regard to clinical care and monitoring. Treatment remains supportive with phototherapy and/or exchange transfusion in the newb...
متن کاملErythrocyte pyruvate kinase deficiency among anemic individuals in Bandar Abbas, Iran
Introduction: In addition to G6PD deficiency, human erythrocyte pyruvate kinase (PK-R) deficiency is one of the most common causes of non-spherocytic hemolytic anemia. Clinical severity of this disorder is not the same in homozygote form of this disease and ranges from mild to chronic and anemia; so it has a wide variation. Severely effected individuals require blood transfusions or splenectomy...
متن کاملErythrocyte pyruvate kinase deficiency in non-spherocytic hemolytic anemia: a system of multiple genetic markers?
E RYTHROCYTE PYRUVATE KINASE (PK) deficiency, described in 1961 by Valentine and his co-workers,1’2 is now considered the basic defect in most nonspherocytic hemolytic anemias not associated with an abnormal hexosemonophosphate shunt.3 The faulty behavior of the red cells in vivo and in vitro is ascribed to an energy deficit due to blocking of an AlT-producing glycolytic step and attended by ma...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Blood
سال: 1991
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v77.12.2774.2774