Severe erythrocyte adenylate kinase deficiency due to homozygous A → G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia

@article{Qualtieri1997SevereEA,
  title={Severe erythrocyte adenylate kinase deficiency due to homozygous A → G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia},
  author={Antonio Qualtieri and Vera Pedace and M. G. Bisconte and Marie Bria and B Gulino and Virginia Andreoli and Carlo Brancati},
  journal={British Journal of Haematology},
  year={1997},
  volume={99}
}
A child of Italian origin with a congenital haemolytic anaemia had spectrophotometrically undetectable erythrocyte adenylate kinase (AK) activity. Her parents and brother had approximately 50% normal AK activity, and AK electrophoresis of red blood cell (RBC) crude extract on cellulose acetate strips showed the presence of the normal allele AK1‐1. No AK band was detected in the AK electrophoresis of the proband, in whom the erythrocyte 2,3‐diphosphoglycerate (2,3DPG) and glutathione (GSH… Expand
A case of complete adenylate kinase deficiency due to a nonsense mutation in AK‐1 gene (Arg 107 → Stop, CGA → TGA) associated with chronic haemolytic anaemia
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Two siblings of Italian origin with mild chronic haemolytic anaemia, psychomotor impairment and undetectable adenylate kinase (AK) activity are reported, and a new variant of AK is named AK Fidenza, from the origin of the patients. Expand
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The hematological, biochemical, and molecular characteristics of a new defective adenylate kinase (AK) variant associated with chronic hemolytic anemia in a 3-year-old girl of southern Italian origin are reported. Expand
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The development of secondary haemochromatosis is the most common cause of mortality in patients suffering from severe chronic non-spherocytic haemolytic anaemia, and must be prevented by timely treatment with effective chelating agents. Expand
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TLDR
Physiological importance of AK1 and P5N-I, which are involved in ribonucleotides metabolism during RBC maturation, are summarized. Expand
Structure and expression of human mitochondrial adenylate kinase targeted to the mitochondrial matrix.
TLDR
Over expression of AK3, but not AK4, in both Escherichia coli CV2, a temperature-sensitive AK mutant, and a human embryonic kidney-derived cell line, HEK-293, not only produced significant GTP:AMP phosphotransferase (AK3) activity, but also complemented the CV2 cells at 42 degrees C. Expand
cDNA cloning and chromosomal mapping of the gene encoding adenylate kinase 2 from Drosophila melanogaster.
TLDR
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References

SHOWING 1-10 OF 28 REFERENCES
Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase.
Adenylate kinase deficiency in the erythrocyte is a rare genetic disorder associated with hemolytic anemia. To determine the molecular basis of this disorder, we first cloned the normal gene encodingExpand
Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?
TLDR
It is proposed that defects occur in multiple phosphotransferases in the AK-deficient RBC and that these other biochemical defects may produce deleterious lesions that promote the shortened RBC survival in AK deficiency. Expand
Metabolic compensation for profound erythrocyte adenylate kinase deficiency. A hereditary enzyme defect without hemolytic anemia.
TLDR
A child with hemolytic anemia was found to have severe erythrocyte adenylate kinase (AK) deficiency, but an equally enzyme-deficient sibling had no evidence of hemolysis, and residual activity is consistent with the existence of genetically independent AK isozyme, AK2, which is known to exist in these tissues. Expand
Red cell adenylate kinase deficiency associated with hereditary nonspherocytic hemolytic anemia: Clinical and biochemical studies
TLDR
Enzymatic characterization by hemolysate revealed that the patients' AK had an increased Michaelis constant for adenosine diphosphate and slight thermal instability, and the patient's enzyme migrated approximately half‐way between the AK 1 and AK 2 position on starch‐gel electrophoresis. Expand
Adenylate kinase of human erythrocyte. Isolation and properties of the predominant inherited form.
TLDR
The isolated enzyme demonstrated remarkable stability to denaturants in the presence of appropriate stabilizing agents and could not be distinguished from rabbit muscle enzyme on this basis. Expand
Congenital haemolytic anaemia associated with adenylate kinase deficiency
TLDR
Six children of one family who are deficient of adenylate kinase (AK) deficiency and in three of them a combined G6PD deficiency was found, resulting in complete remission of the haemolytic process. Expand
HPLC determination of oxidized and reduced pyridine coenzymes in human erythrocytes.
TLDR
Purine nucleotide quantification seemed to be reliable by all methods and both alkaline and acid extractions were necessary to obtain the complete pattern, due to defective recovery of the oxidized or reduced coenzymes during the extraction procedures. Expand
Rapid determination of erythrocyte pyruvate kinase activity.
TLDR
It is found that women possess a higher RBC-PK than do men (P < 0.0001) and that the biological variability (CVb) of R BC-PK is 13.5%. Expand
Mechanism of adenylate kinase. Histidine-36 is not directly involved in catalysis, but protects cysteine-25 and stabilizes the tertiary structure.
TLDR
His-36 was found to stabilize the tertiary structure of AK on the basis of guanidine hydrochloride induced denaturation studies, which showed that the conformational stability decreases in the order WT greater than H36Q greater thanH36N. Expand
Erythrocytic glucose-6-phosphate dehydrogenase measured by a differential pH technique.
TLDR
The proposed new quantitative electrochemical method for determining glucose-6-phosphate dehydrogenase activity in purified erythrocytes or in whole blood is simple and fast, and the standard curve is linear to at least 2200 U/L at 37 degrees C. Expand
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