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Hemolytic anemia due to adenylate kinase deficiency

MedGen UID:
390802
•Concept ID:
C2675459
•
Disease or Syndrome
Synonym: Adenylate Kinase Deficiency, Hemolytic Anemia Due To
SNOMED CT: Hemolytic anemia due to adenylate kinase deficiency (766982000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): AK1 (9q34.11)
 
Monarch Initiative: MONDO:0012967
OMIM®: 612631
Orphanet: ORPHA86817

Definition

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. [from SNOMEDCT_US]

Clinical features

From HPO
Hemolytic anemia
MedGen UID:
1916
•Concept ID:
C0002878
•
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
See: Feature record | Search on this feature
Reduced erythrocyte adenylate kinase activity
MedGen UID:
1053214
•Concept ID:
CN377390
•
Finding
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.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemolytic anemia due to adenylate kinase deficiency
Follow this link to review classifications for Hemolytic anemia due to adenylate kinase deficiency in Orphanet.

Recent clinical studies

Etiology

Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA).
He S, Chen H, Guo X, Gao J
BMC Med Genomics 2022 May 4;15(1):102. doi: 10.1186/s12920-022-01248-2. PMID: 35509045Free PMC Article
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article
Pyrimidine 5'-nucleotidase acquired deficiency in beta-thalassemia: involvement of enzyme-SH groups in the inactivation process.
David O, Vota MG, Piga A, Ramenghi U, Bosia A, Pescarmona GP
Acta Haematol 1989;82(2):69-74. doi: 10.1159/000205286. PMID: 2552730
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
Anthropological studies among Libyans. Erythrocyte genetic factors, serum haptoglobin phenotypes and anthropometry.
Kamel K, 'Umar M, Ibrahim W, Mansour A, Gaballah F, Selim O, Azim A, Hamza S, Sabry F, Moafy N, El-naggar A, Hoerman K
Am J Phys Anthropol 1975 Jul;43(1):103-11. doi: 10.1002/ajpa.1330430114. PMID: 808138

Diagnosis

Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA).
He S, Chen H, Guo X, Gao J
BMC Med Genomics 2022 May 4;15(1):102. doi: 10.1186/s12920-022-01248-2. PMID: 35509045Free PMC Article
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article
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
Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.
Abrusci P, Chiarelli LR, Galizzi A, Fermo E, Bianchi P, Zanella A, Valentini G
Exp Hematol 2007 Aug;35(8):1182-9. doi: 10.1016/j.exphem.2007.05.004. PMID: 17662886
Enzymatic diagnosis in non-spherocytic hemolytic anemia.
Hirono A, Forman L, Beutler E
Medicine (Baltimore) 1988 Mar;67(2):110-7. doi: 10.1097/00005792-198803000-00004. PMID: 3352512

Therapy

Erythrocyte enzyme deficiencies assessed with a miniature centrifugal analyzer.
Fielek S, Mohrenweiser HW
Clin Chem 1979 Mar;25(3):384-8. PMID: 162438

Prognosis

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article
Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia.
Corrons JL, Garcia E, Tusell JJ, Varughese KI, West C, Beutler E
Blood 2003 Jul 1;102(1):353-6. Epub 2003 Mar 20 doi: 10.1182/blood-2002-07-2288. PMID: 12649162

Clinical prediction guides

Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia.
Corrons JL, Garcia E, Tusell JJ, Varughese KI, West C, Beutler E
Blood 2003 Jul 1;102(1):353-6. Epub 2003 Mar 20 doi: 10.1182/blood-2002-07-2288. PMID: 12649162
Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia.
Martinov MV, Plotnikov AG, Vitvitsky VM, Ataullakhanov FI
Biochim Biophys Acta 2000 Mar 6;1474(1):75-87. doi: 10.1016/s0304-4165(99)00218-4. PMID: 10699493
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
PGI*3(Israel), a new, unstable allele in the phosphoglucose isomerase system.
Bonné-Tamir B, Papiha SS, Ashbel S, Brok-Simoni F, Kende G, Ramot B
Hum Genet 1987 Sep;77(1):76-9. doi: 10.1007/BF00284718. PMID: 3476458
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

Supplemental Content

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    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
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