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Reduced erythrocyte adenosine triphosphate concentration

MedGen UID:
1841667
Concept ID:
C5826911
Finding
HPO: HP:4000184

Definition

Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced erythrocyte adenosine triphosphate concentration

Conditions with this feature

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
MedGen UID:
400240
Concept ID:
C1863235
Disease or Syndrome
Congenital nonspherocytic hemolytic anemia-9 (CNSHA9) is an X-linked hematologic disorder characterized by onset of mild to moderate red cell anemia soon after birth or in childhood. The anemia is associated with significantly increased activity of ADA (608958) specifically in erythrocyte precursors. ATP levels may be secondarily decreased. Additional features may include low birth weight, thrombocytopenia, hypospadias, and splenomegaly. Males are preferentially affected, although carrier females may show elevated erythrocyte ADA or mild features (Ludwig et al., 2022).

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Deryugina AV, Danilova DA, Skokova AA, Brichkin YD, Pichugin VV, Medvedev AP, Ryazanov MV, Fedorov SA
Bull Exp Biol Med 2022 Sep;173(5):602-605. Epub 2022 Oct 10 doi: 10.1007/s10517-022-05595-z. PMID: 36210415
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Ann Neurol 2019 Aug;86(2):225-240. Epub 2019 Jul 1 doi: 10.1002/ana.25524. PMID: 31187503Free PMC Article
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Diagnosis

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Therapy

Pilo F, Angelucci E
Drugs Today (Barc) 2023 Mar;59(3):125-134. doi: 10.1358/dot.2023.59.3.3521880. PMID: 36847623
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group
Ann Neurol 2019 Aug;86(2):225-240. Epub 2019 Jul 1 doi: 10.1002/ana.25524. PMID: 31187503Free PMC Article
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Prognosis

Yoshikawa N, Yokota T, Matsuo A, Matsumoto N, Iwakiri T, Ikeda R
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Clinical prediction guides

Laengst E, Crettaz D, Tissot JD, Prudent M
Cells 2023 May 23;12(11) doi: 10.3390/cells12111454. PMID: 37296575Free PMC Article
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