Deficiency of AMP deaminase in erythrocytes
- 1 January 1987
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 75 (1) , 15-18
- https://doi.org/10.1007/bf00273831
Abstract
Summary Six individuals with complete deficiency of erythrocyte AMP deaminase have been discovered. They are all healthy and have no hematological disorders. The deficiency is only in isozyme E, which is the erythrocyte type isozyme, and is inherited as an autosomal recessive trait. The frequency of the mutant gene is surprisingly high, one heterozygote in about 30 of the population in Japan, Seoul, and Taipei. The ATP level is approximately 50% higher in AMP-deficient erythrocytes compared to that of control cells. Degradation of adenine nucleotide is slower in the deficient erythrocytes than in the control erythrocytes.Keywords
This publication has 23 references indexed in Scilit:
- Complete deficiency of AMP deaminase in human erythrocytesBiochemical and Biophysical Research Communications, 1984
- Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle.Journal of Clinical Investigation, 1984
- AMP deaminase isozymes in human tissuesBiochimica et Biophysica Acta (BBA) - General Subjects, 1982
- Adenosine kinase from human liverBiochimica et Biophysica Acta (BBA) - Enzymology, 1981
- Disruption of the Purine Nucleotide CycleJournal of Clinical Investigation, 1980
- Distribution of AMP‐Deaminase Isozymes in Rat TissuesEuropean Journal of Biochemistry, 1978
- Myoadenylate Deaminase Deficiency: A New Disease of MuscleScience, 1978
- Adenine and Adenosine Are Toxic to Human Lymphoblast Mutants Defective in Purine Salvage EnzymesScience, 1977
- The purine nucleotide cycle. A pathway for ammonia production in the rat kidney.Journal of Clinical Investigation, 1976
- Ammonia Production in Muscle: The Purine Nucleotide CycleScience, 1971