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Reduced erythrocyte hexokinase activity

MedGen UID:
1053656
•Concept ID:
CN377391
•
Finding
HPO: HP:6000559

Definition

Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced erythrocyte hexokinase activity

Conditions with this feature

Hemolytic anemia due to hexokinase deficiency
MedGen UID:
461693
•Concept ID:
C3150343
•
Disease or Syndrome
Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary by van Wijk et al., 2003).
See: Condition Record
Hemolytic anemia due to hexokinase deficiency

Recent clinical studies

Etiology

Bicarbonate versus lactate buffer in peritoneal dialysis solutions: the beneficial effect on RBC metabolism.
Buoncristiani U, Galli F, Rovidati S, Albertini MC, Covarelli C, Carobi C, Di Paolo N, Canestrari F
Perit Dial Int 1996 Sep-Oct;16(5):511-8. PMID: 8914181
Hemolytic anemias due to erythrocyte enzyme deficiencies.
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716
Hematological studies in children with Down syndrome.
David O, Fiorucci GC, Tosi MT, Altare F, Valori A, Saracco P, Asinardi P, Ramenghi U, Gabutti V
Pediatr Hematol Oncol 1996 May-Jun;13(3):271-5. doi: 10.3109/08880019609030827. PMID: 8735344
The use of knowledge-based information systems for interpreting specialized clinical chemistry analyses--experience from erythrocyte enzymes and metabolites.
Wiener F, de Verdier CH, Groth T
Scand J Clin Lab Invest 1990 May;50(3):247-59. doi: 10.3109/00365519009091576. PMID: 2353154
Metabolic effects of antisickling amounts of nitrogen and nor-nitrogen mustard on rabbit and human erythrocytes.
Roth EF Jr, Nagel RL, Neuman G, Vanderhoff G, Kaplan BH, Jaffé ER
Blood 1975 Jun;45(6):779-88. PMID: 1125427

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
Glycometabolic adaptation mediates the insensitivity of drug-resistant K562/ADM leukaemia cells to adriamycin via the AKT-mTOR/c-Myc signalling pathway.
Zhang X, Ai Z, Chen J, Yi J, Liu Z, Zhao H, Wei H
Mol Med Rep 2017 Apr;15(4):1869-1876. Epub 2017 Feb 10 doi: 10.3892/mmr.2017.6189. PMID: 28259993
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Corrons JL, Alvarez R, Pujades A, Zarza R, Oliva E, Lasheras G, Callis M, Ribes A, Gelbart T, Beutler E
Br J Haematol 2001 Feb;112(2):475-82. doi: 10.1046/j.1365-2141.2001.02526.x. PMID: 11167850
Regulation of the human-erythrocyte hexose-monophosphate shunt under conditions of oxidative stress. A study using NMR spectroscopy, a kinetic isotope effect, a reconstituted system and computer simulation.
Thorburn DR, Kuchel PW
Eur J Biochem 1985 Jul 15;150(2):371-86. doi: 10.1111/j.1432-1033.1985.tb09030.x. PMID: 4018089

Therapy

Bicarbonate versus lactate buffer in peritoneal dialysis solutions: the beneficial effect on RBC metabolism.
Buoncristiani U, Galli F, Rovidati S, Albertini MC, Covarelli C, Carobi C, Di Paolo N, Canestrari F
Perit Dial Int 1996 Sep-Oct;16(5):511-8. PMID: 8914181

Prognosis

Metabolic homeostasis in the human erythrocyte: in silico analysis.
de Atauri P, Ramírez MJ, Kuchel PW, Carreras J, Cascante M
Biosystems 2006 Feb-Mar;83(2-3):118-24. Epub 2005 Oct 19 doi: 10.1016/j.biosystems.2005.03.005. PMID: 16236423
Hemolytic anemias due to erythrocyte enzyme deficiencies.
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716
Regulation of the human-erythrocyte hexose-monophosphate shunt under conditions of oxidative stress. A study using NMR spectroscopy, a kinetic isotope effect, a reconstituted system and computer simulation.
Thorburn DR, Kuchel PW
Eur J Biochem 1985 Jul 15;150(2):371-86. doi: 10.1111/j.1432-1033.1985.tb09030.x. PMID: 4018089

Clinical prediction guides

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
Metabolic homeostasis in the human erythrocyte: in silico analysis.
de Atauri P, Ramírez MJ, Kuchel PW, Carreras J, Cascante M
Biosystems 2006 Feb-Mar;83(2-3):118-24. Epub 2005 Oct 19 doi: 10.1016/j.biosystems.2005.03.005. PMID: 16236423
Bicarbonate versus lactate buffer in peritoneal dialysis solutions: the beneficial effect on RBC metabolism.
Buoncristiani U, Galli F, Rovidati S, Albertini MC, Covarelli C, Carobi C, Di Paolo N, Canestrari F
Perit Dial Int 1996 Sep-Oct;16(5):511-8. PMID: 8914181
Hemolytic anemias due to erythrocyte enzyme deficiencies.
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716
Regulation of the human-erythrocyte hexose-monophosphate shunt under conditions of oxidative stress. A study using NMR spectroscopy, a kinetic isotope effect, a reconstituted system and computer simulation.
Thorburn DR, Kuchel PW
Eur J Biochem 1985 Jul 15;150(2):371-86. doi: 10.1111/j.1432-1033.1985.tb09030.x. PMID: 4018089

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