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Reduced erythrocyte adenylate kinase activity

MedGen UID:
1053214
•Concept ID:
CN377390
•
Finding
HPO: HP:6000558

Definition

Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced erythrocyte adenylate kinase activity

Conditions with this feature

Hemolytic anemia due to adenylate kinase deficiency
MedGen UID:
390802
•Concept ID:
C2675459
•
Disease or Syndrome
A rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
See: Condition Record
Hemolytic anemia due to adenylate kinase deficiency

Recent clinical studies

Etiology

Pyrimidine 5'nucleotidase and several other red cell enzyme activities in beta-thalassaemia trait.
Vives Corrons JL, Pujades MA, Aguilar i Bascompte JL, Jou JM, Rozman C, Ester A
Br J Haematol 1984 Mar;56(3):483-94. doi: 10.1111/j.1365-2141.1984.tb03978.x. PMID: 6320862
Activities of enzymes involved in purine metabolism and some related adenine nucleotide concentrations of leucocytes in renal failure.
Mansell MA, Allsop J, North ME, Simmonds RJ, Harkness RA, Watts RW
Nephron 1982;32(1):18-21. doi: 10.1159/000182725. PMID: 6294537

Diagnosis

Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).
Dongerdiye R, Kamat P, Jain P, Warang P, Devendra R, Wasekar N, Sharma R, Mhaskar K, Madkaikar MR, Manglani MV, Kedar PS
J Clin Pathol 2019 Jun;72(6):393-398. Epub 2019 Mar 27 doi: 10.1136/jclinpath-2019-205718. PMID: 30918013

Clinical prediction guides

Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis.
Juli G, Gismondi A, Monteleone V, Caldarola S, Iadevaia V, Aspesi A, Dianzani I, Proud CG, Loreni F
Sci Rep 2016 Oct 13;6:35026. doi: 10.1038/srep35026. PMID: 27734913Free PMC Article
Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase.
Matsuura S, Igarashi M, Tanizawa Y, Yamada M, Kishi F, Kajii T, Fujii H, Miwa S, Sakurai M, Nakazawa A
J Biol Chem 1989 Jun 15;264(17):10148-55. PMID: 2542324
Metabolic interconnection between the human malarial parasite Plasmodium falciparum and its host erythrocyte. Regulation of ATP levels by means of an adenylate translocator and adenylate kinase.
Kanaani J, Ginsburg H
J Biol Chem 1989 Feb 25;264(6):3194-9. PMID: 2536737
Pyrimidine 5'nucleotidase and several other red cell enzyme activities in beta-thalassaemia trait.
Vives Corrons JL, Pujades MA, Aguilar i Bascompte JL, Jou JM, Rozman C, Ester A
Br J Haematol 1984 Mar;56(3):483-94. doi: 10.1111/j.1365-2141.1984.tb03978.x. PMID: 6320862

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