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Abnormal erythrocyte metabolite concentration

MedGen UID:
1841906
•Concept ID:
C5826626
•
Finding
HPO: HP:0034737

Definition

A deviation from the normal range of a metabolite in red blood cells. [from HPO]

Recent clinical studies

Etiology

Blood S-adenosylmethionine concentrations and lymphocyte methylenetetrahydrofolate reductase activity in diabetes mellitus and diabetic nephropathy.
Poirier LA, Brown AT, Fink LM, Wise CK, Randolph CJ, Delongchamp RR, Fonseca VA
Metabolism 2001 Sep;50(9):1014-8. doi: 10.1053/meta.2001.25655. PMID: 11555831
Polymorphonuclear elastase as a diagnostic marker of acute pyelonephritis in children.
Fretzayas A, Moustaki M, Gourgiotis D, Bossios A, Koukoutsakis P, Stavrinadis C
Pediatrics 2000 Feb;105(2):E28. doi: 10.1542/peds.105.2.e28. PMID: 10654988
Antioxidant status in hyperphenylalaninemia.
Sierra C, Vilaseca MA, Moyano D, Brandi N, Campistol J, Lambruschini N, Cambra FJ, Deulofeu R, Mira A
Clin Chim Acta 1998 Aug 10;276(1):1-9. doi: 10.1016/s0009-8981(98)00091-6. PMID: 9760015
Effects of pentoxifylline and metabolite on red blood cell deformability as measured by ektacytometry.
Cummings DM, Ballas SK
Angiology 1990 Feb;41(2):118-23. doi: 10.1177/000331979004100205. PMID: 2306004

Diagnosis

Associations between central and peripheral measures of phospholipid breakdown revealed by cerebral 31-phosphorus magnetic resonance spectroscopy and fatty acid composition of erythrocyte membranes.
Richardson AJ, Allen SJ, Hajnal JV, Cox IJ, Easton T, Puri BK
Prog Neuropsychopharmacol Biol Psychiatry 2001 Nov;25(8):1513-21. doi: 10.1016/s0278-5846(01)00211-1. PMID: 11642651
Polymorphonuclear elastase as a diagnostic marker of acute pyelonephritis in children.
Fretzayas A, Moustaki M, Gourgiotis D, Bossios A, Koukoutsakis P, Stavrinadis C
Pediatrics 2000 Feb;105(2):E28. doi: 10.1542/peds.105.2.e28. PMID: 10654988

Therapy

Clinical oxidative stress during leprosy multidrug therapy: impact of dapsone oxidation.
Schalcher TR, Borges RS, Coleman MD, Batista Júnior J, Salgado CG, Vieira JL, Romão PR, Oliveira FR, Monteiro MC
PLoS One 2014;9(1):e85712. Epub 2014 Jan 22 doi: 10.1371/journal.pone.0085712. PMID: 24465659Free PMC Article
Sickle cell disease: from membrane pathophysiology to novel therapies for prevention of erythrocyte dehydration.
Brugnara C
J Pediatr Hematol Oncol 2003 Dec;25(12):927-33. doi: 10.1097/00043426-200312000-00004. PMID: 14663274
Associations between central and peripheral measures of phospholipid breakdown revealed by cerebral 31-phosphorus magnetic resonance spectroscopy and fatty acid composition of erythrocyte membranes.
Richardson AJ, Allen SJ, Hajnal JV, Cox IJ, Easton T, Puri BK
Prog Neuropsychopharmacol Biol Psychiatry 2001 Nov;25(8):1513-21. doi: 10.1016/s0278-5846(01)00211-1. PMID: 11642651
Blood S-adenosylmethionine concentrations and lymphocyte methylenetetrahydrofolate reductase activity in diabetes mellitus and diabetic nephropathy.
Poirier LA, Brown AT, Fink LM, Wise CK, Randolph CJ, Delongchamp RR, Fonseca VA
Metabolism 2001 Sep;50(9):1014-8. doi: 10.1053/meta.2001.25655. PMID: 11555831
Effects of methionine loading on plasma and erythrocyte sulphur amino acids and sulph-hydryls before and after co-factor supplementation in haemodialysis patients.
Suliman ME, Filho JC, Bárány P, Anderstam B, Lindholm B, Bergström J
Nephrol Dial Transplant 2001 Jan;16(1):102-10. doi: 10.1093/ndt/16.1.102. PMID: 11209001

Prognosis

Mass action stoichiometric simulation models: incorporating kinetics and regulation into stoichiometric models.
Jamshidi N, Palsson BØ
Biophys J 2010 Jan 20;98(2):175-85. doi: 10.1016/j.bpj.2009.09.064. PMID: 20338839Free PMC Article
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
Hirschhorn R, Chakravarti V, Puck J, Douglas SD
Am J Hum Genet 1991 Oct;49(4):878-85. PMID: 1680289Free PMC Article
Change of deformability and Heinz body formation in G6PD-deficient erythrocytes treated with 5-hydroxy-6-desmethylprimaquine.
Thompson SF, Fraser IM, Strother A, Bull BS
Blood Cells 1989;15(2):443-52; discussion 453-4. PMID: 2765673

Clinical prediction guides

A gene-targeted mouse model for chorea-acanthocytosis.
Tomemori Y, Ichiba M, Kusumoto A, Mizuno E, Sato D, Muroya S, Nakamura M, Kawaguchi H, Yoshida H, Ueno S, Nakao K, Nakamura K, Aiba A, Katsuki M, Sano A
J Neurochem 2005 Feb;92(4):759-66. doi: 10.1111/j.1471-4159.2004.02924.x. PMID: 15686477
Sickle cell disease: from membrane pathophysiology to novel therapies for prevention of erythrocyte dehydration.
Brugnara C
J Pediatr Hematol Oncol 2003 Dec;25(12):927-33. doi: 10.1097/00043426-200312000-00004. PMID: 14663274
Blood S-adenosylmethionine concentrations and lymphocyte methylenetetrahydrofolate reductase activity in diabetes mellitus and diabetic nephropathy.
Poirier LA, Brown AT, Fink LM, Wise CK, Randolph CJ, Delongchamp RR, Fonseca VA
Metabolism 2001 Sep;50(9):1014-8. doi: 10.1053/meta.2001.25655. PMID: 11555831
Antioxidant status in hyperphenylalaninemia.
Sierra C, Vilaseca MA, Moyano D, Brandi N, Campistol J, Lambruschini N, Cambra FJ, Deulofeu R, Mira A
Clin Chim Acta 1998 Aug 10;276(1):1-9. doi: 10.1016/s0009-8981(98)00091-6. PMID: 9760015
Intracellular free magnesium and phosphorylated metabolites in hexokinase- and pyruvate kinase-deficient red cells measured using 31P-NMR spectroscopy.
Ouwerkerk R, van Echteld CJ, Staal GE, Rijksen G
Biochim Biophys Acta 1989 Mar 6;1010(3):294-303. doi: 10.1016/0167-4889(89)90052-9. PMID: 2920177

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