Elevated red cell pyruvate kinase activity

MedGen UID:: 1053135
•Concept ID:: CN377393
•: Finding

HPO:	HP:6000561

Definition

Activity or concentration of pyruvate kinase (EC 2.7.1.40) in erythrocytes above the upper limit of normal. Pyruvate kinase (EC 2.7.1.40) is a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVElevated red cell pyruvate kinase activity

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal enzyme concentration or activity
    - Abnormal erythrocyte enzyme concentration or activity
      - Elevated red cell pyruvate kinase activity

Recent clinical studies

Diagnosis

Enzymatic Changes in Red Blood Cells of Diamond-Blackfan Anemia.

Utsugisawa T, Uchiyama T, Toki T, Shimojima-Yamamoto K, Ohga S, Ito E, Kanno H
Tohoku J Exp Med 2021 Sep;255(1):49-55. doi: 10.1620/tjem.255.49. PMID: 34526430

Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.

Andres O, Loewecke F, Morbach H, Kraus S, Einsele H, Eber S, Speer CP
Br J Haematol 2019 Nov;187(3):386-395. Epub 2019 Jul 5 doi: 10.1111/bjh.16084. PMID: 31273765

Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate kinase "deficiency".

Beutler E, Forman L, Rios-Larrain E
Am J Med 1987 Nov;83(5):899-904. doi: 10.1016/0002-9343(87)90648-6. PMID: 3674096

Red-cell amino acid transport. Evidence for the presence of system ASC in mature human red blood cells.

Young JD, Wolowyk MW, Jones SM, Ellory JC
Biochem J 1983 Nov 15;216(2):349-57. doi: 10.1042/bj2160349. PMID: 6661202 Free PMC Article

Congenital non-spherocytic haemolytic anaemia variants with primary and secondary pyruvate kinase deficiency. II. Enzymatic studies.

Gumińska M, Wazewska-Czyzewska M
Br J Haematol 1979 Jan;41(1):125-32. doi: 10.1111/j.1365-2141.1979.tb03688.x. PMID: 154343

See all (7)

Therapy

Effect of type I (insulin-dependent) diabetes mellitus on key glycolytic enzymes of red blood cells.

Suhail M, Rizvi S
Acta Diabetol Lat 1989 Oct-Dec;26(4):315-20. doi: 10.1007/BF02624643. PMID: 2534257

See all (1)

Prognosis

Red cell enzymopathies in leukemias.

Devi GS, Prasad MH, Pushpavathi K, Reddy PP, Rao DN
Indian J Exp Biol 1996 Dec;34(12):1224-8. PMID: 9246916

Erythrocyte pyruvate kinase deficiency. The influence of physiologically important metabolites on the function of normal and defective enzymes.

Lakomek M, Winkler H, Pekrun A, Krüger N, Sander M, Huppke P, Schröter W
Enzyme Protein 1994-1995;48(3):149-63. PMID: 8589802

See all (2)

Clinical prediction guides