Page last updated: 2024-10-17

methylmalonic acid and Hyperhomocysteinemia

methylmalonic acid has been researched along with Hyperhomocysteinemia in 37 studies

Methylmalonic Acid: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
methylmalonic acid : A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.

Hyperhomocysteinemia: Condition in which the plasma levels of homocysteine and related metabolites are elevated (

Research Excerpts

ExcerptRelevanceReference
"Hyperhomocysteinemia is associated with arterial stiffness, but underlying pathophysiological mechanisms explaining this association are to be revealed."9.19B-vitamin levels and genetics of hyperhomocysteinemia are not associated with arterial stiffness. ( Blom, H; Brouwer-Brolsma, EM; de Groot, LC; de Jongh, RT; Dhonukshe-Rutten, RA; Enneman, AW; Feskens, E; Geleijnse, JM; Ham, AH; Lips, P; Mattace-Raso, FU; Smulders, YM; Swart, KM; Uitterlinden, AG; van den Meiracker, AH; van der Velde, N; van der Zwaluw, NL; van Dijk, SC; van Meurs, J; van Schoor, NM; van Wijngaarden, JP, 2014)
"Renal failure causes hyperhomocysteinemia, an important risk factor for cardiovascular disease and venous access thrombosis in end-stage renal disease (ESRD)."9.10Hydroxocobalamin reduces hyperhomocysteinemia in end-stage renal disease. ( Elian, KM; Hoffer, LJ, 2002)
" Randomized placebo-controlled clinical trials of longer duration and using larger or more frequent parenteral doses are indicated to determine whether administration of this safe and inexpensive vitamin can improve hyperhomocysteinemia in ESRD."9.09Parenteral vitamin B12 reduces hyperhomocysteinemia in end-stage renal disease. ( Hoffer, LJ; Kaplan, LN; Mamer, OA, 2001)
" CblC deficiency, an inborn error of cobalamin processing, is a rare cause of atypical hemolytic-uremic syndrome (aHUS) and results in hyperhomocysteinemia and methylmalonic aciduria."8.12The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency. ( Elmaghrabi, A; Gotway, G; Wolf, MTF; Wood, WD, 2022)
"The association of moderate hyperhomocysteinemia (HHcy) (15-30 μmol/L) with cardiovascular diseases (CVD) has been challenged by the lack of benefit of vitamin supplementation to lowering homocysteine."8.02Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients. ( Guéant, JL; Jeannesson, E; Levy, J; Oussalah, A; Rodriguez-Guéant, RM; Wahl, D; Ziuly, S, 2021)
"Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration."7.78Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration. ( Brosnan, JT; Brosnan, ME; Lamarre, SG; Molloy, AM; Reinke, SN; Sykes, BD, 2012)
"This study aimed at assessing the relationship between thrombosis, hyperhomocysteinemia and vitamin B12 deficiency using a case-control study carried out in 326 patients with thrombosis (case group) and 351 patients from the same hospital (control group)."7.77Vitamin B12 deficiency, hyperhomocysteinemia and thrombosis: a case and control study. ( Cuesta, J; Férnandez, C; García-Moll, X; Martí-Fabregas, J; Piñana, JL; Queraltó, JM; Remacha, AF; Rodriguez, A; Sardà, MP; Souto, JC, 2011)
"Hyperhomocysteinemia is a risk factor in obstetrical complications such as pre-eclampsia, 'hemolysis, elevated liver enzymes, low platelet' (HELLP)-syndrome and placental insufficiency."7.72Alteration of homocysteine catabolism in pre-eclampsia, HELLP syndrome and placental insufficiency. ( Geisel, J; Herrmann, W; Hübner, U; Koch, I; Obeid, R; Retzke, U, 2004)
" Hyperhomocysteinemia (> 12 micromol/L) was present in 16% of the omnivores, 38% of the LV-LOV group, and 67% of the vegans."7.72Vitamin B-12 status, particularly holotranscobalamin II and methylmalonic acid concentrations, and hyperhomocysteinemia in vegetarians. ( Geisel, J; Herrmann, W; Obeid, R; Schorr, H, 2003)
"Hyperhomocysteinemia is an accepted risk factor for coronary artery disease, but the determining factors are not fully understood."7.72Hyperhomocysteinemia and vitamin B-12 deficiency are more striking in Syrians than in Germans--causes and implications. ( Herrmann, W; Jouma, M; Obeid, R, 2003)
" Forty-seven percent of the subjects had cobalamin deficiency (total cobalamin <150 pmol/L), 73% had low holoTC (<35 pmol/L), 77% had hyperhomocysteinemia (tHcy >15 micromol/L), and 73% had elevated serum MMA (>0."7.71Hyperhomocysteinemia and elevated methylmalonic acid indicate a high prevalence of cobalamin deficiency in Asian Indians. ( Gadkari, M; Guttormsen, AB; Joglekar, A; Orning, L; Refsum, H; Sayyad, MG; Schneede, J; Ueland, PM; Ulvik, A; Vollset, SE; Yajnik, CS, 2001)
"Proteinuria were a primary presenting symptom, followed by anemia and neurologic symptoms (frequent convulsions and unstable walking, respectively)."5.56Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report. ( Chen, LQ; Chen, RY; Chen, XQ; Li, XZ; Lin, Q; Shen, YY; Wu, HY; Xu, QY; Zhu, XM; Zhu, Y, 2020)
"Hyperhomocysteinemia is associated with arterial stiffness, but underlying pathophysiological mechanisms explaining this association are to be revealed."5.19B-vitamin levels and genetics of hyperhomocysteinemia are not associated with arterial stiffness. ( Blom, H; Brouwer-Brolsma, EM; de Groot, LC; de Jongh, RT; Dhonukshe-Rutten, RA; Enneman, AW; Feskens, E; Geleijnse, JM; Ham, AH; Lips, P; Mattace-Raso, FU; Smulders, YM; Swart, KM; Uitterlinden, AG; van den Meiracker, AH; van der Velde, N; van der Zwaluw, NL; van Dijk, SC; van Meurs, J; van Schoor, NM; van Wijngaarden, JP, 2014)
"Hyperhomocysteinemia is a frequent finding after cardiac transplantation, but increased folate intake induces a decrease in total homocysteine concentrations."5.11Effects of folic acid fortification and multivitamin therapy on homocysteine and vitamin B(12) status in cardiac transplant recipients. ( Cole, DE; Delgado, DH; Evrovski, J; Keren, ES; Langman, LJ; Mamer, OA; Miner, SE; Miriuka, SG; Ross, HJ, 2004)
"Renal failure causes hyperhomocysteinemia, an important risk factor for cardiovascular disease and venous access thrombosis in end-stage renal disease (ESRD)."5.10Hydroxocobalamin reduces hyperhomocysteinemia in end-stage renal disease. ( Elian, KM; Hoffer, LJ, 2002)
" Randomized placebo-controlled clinical trials of longer duration and using larger or more frequent parenteral doses are indicated to determine whether administration of this safe and inexpensive vitamin can improve hyperhomocysteinemia in ESRD."5.09Parenteral vitamin B12 reduces hyperhomocysteinemia in end-stage renal disease. ( Hoffer, LJ; Kaplan, LN; Mamer, OA, 2001)
"Non-insulin-dependent diabetes mellitus (NIDDM) and hyperhomocysteinemia are both associated with premature vascular disease."5.09Total homocysteine is associated with nephropathy in non-insulin-dependent diabetes mellitus. ( Allen, RH; Cohen, JA; Estacio, R; Jeffers, BW; Schrier, RW; Stabler, SP, 1999)
" CblC deficiency, an inborn error of cobalamin processing, is a rare cause of atypical hemolytic-uremic syndrome (aHUS) and results in hyperhomocysteinemia and methylmalonic aciduria."4.12The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency. ( Elmaghrabi, A; Gotway, G; Wolf, MTF; Wood, WD, 2022)
"The association of moderate hyperhomocysteinemia (HHcy) (15-30 μmol/L) with cardiovascular diseases (CVD) has been challenged by the lack of benefit of vitamin supplementation to lowering homocysteine."4.02Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients. ( Guéant, JL; Jeannesson, E; Levy, J; Oussalah, A; Rodriguez-Guéant, RM; Wahl, D; Ziuly, S, 2021)
"A previously healthy 7-week-old boy developed bilateral central retinal artery occlusions in the presence of hyperhomocysteinemia and elevated serum methylmalonic acid and was found to have a transcobalamin receptor mutation."3.78Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia. ( Costakos, D; Karth, P; Kim, J; Singh, R, 2012)
"Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration."3.78Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration. ( Brosnan, JT; Brosnan, ME; Lamarre, SG; Molloy, AM; Reinke, SN; Sykes, BD, 2012)
"This study aimed at assessing the relationship between thrombosis, hyperhomocysteinemia and vitamin B12 deficiency using a case-control study carried out in 326 patients with thrombosis (case group) and 351 patients from the same hospital (control group)."3.77Vitamin B12 deficiency, hyperhomocysteinemia and thrombosis: a case and control study. ( Cuesta, J; Férnandez, C; García-Moll, X; Martí-Fabregas, J; Piñana, JL; Queraltó, JM; Remacha, AF; Rodriguez, A; Sardà, MP; Souto, JC, 2011)
"TC genotype and its associations with indicators of B12 status, including total B12, holotranscobalamin (holoTC), methylmalonic acid and homocysteine, were evaluated in a cohort of elderly Latinos (N=554, age 60-93 years) from the Sacramento Area Latino Study on Aging (SALSA)."3.76Transcobalamin C776G genotype modifies the association between vitamin B12 and homocysteine in older Hispanics. ( Allen, LH; Garrod, MG; Green, R; Haan, MN; Miller, JW, 2010)
" Hyperhomocysteinemia (> 12 micromol/L) was present in 16% of the omnivores, 38% of the LV-LOV group, and 67% of the vegans."3.72Vitamin B-12 status, particularly holotranscobalamin II and methylmalonic acid concentrations, and hyperhomocysteinemia in vegetarians. ( Geisel, J; Herrmann, W; Obeid, R; Schorr, H, 2003)
"End-stage renal disease (ESRD) is associated with moderately severe hyperhomocysteinemia that is incompletely normalized by oral folic acid therapy and vitamin B12."3.72Parenteral vitamin B12 therapy of hyperhomocysteinemia in end-stage renal disease. ( Elian, KM; Hoffer, LJ, 2004)
"Hyperhomocysteinemia is a risk factor in obstetrical complications such as pre-eclampsia, 'hemolysis, elevated liver enzymes, low platelet' (HELLP)-syndrome and placental insufficiency."3.72Alteration of homocysteine catabolism in pre-eclampsia, HELLP syndrome and placental insufficiency. ( Geisel, J; Herrmann, W; Hübner, U; Koch, I; Obeid, R; Retzke, U, 2004)
"Methylenetetrahydrofolate reductase 677 (MTHFR 677) polymorphism may provoke hyperhomocysteinemia when folate status is low."3.72Homocysteine, methylenetetrahydrofolate reductase C677T polymorphism and the B-vitamins: a facet of nature-nurture interplay. ( Geisel, J; Herrmann, W; Obeid, R; Schorr, H; Zarzour, W, 2003)
"Hyperhomocysteinemia is an accepted risk factor for coronary artery disease, but the determining factors are not fully understood."3.72Hyperhomocysteinemia and vitamin B-12 deficiency are more striking in Syrians than in Germans--causes and implications. ( Herrmann, W; Jouma, M; Obeid, R, 2003)
" Forty-seven percent of the subjects had cobalamin deficiency (total cobalamin <150 pmol/L), 73% had low holoTC (<35 pmol/L), 77% had hyperhomocysteinemia (tHcy >15 micromol/L), and 73% had elevated serum MMA (>0."3.71Hyperhomocysteinemia and elevated methylmalonic acid indicate a high prevalence of cobalamin deficiency in Asian Indians. ( Gadkari, M; Guttormsen, AB; Joglekar, A; Orning, L; Refsum, H; Sayyad, MG; Schneede, J; Ueland, PM; Ulvik, A; Vollset, SE; Yajnik, CS, 2001)
"Hyperhomocysteinemia, a well-recognized cardiovascular risk factor, is frequent in hemodialysis (HD) patients."3.71Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients. ( Funamizu, M; Hata, A; Hayashi, K; Hiejima, Y; Hirayama, H; Kawabata, M; Makita, Y; Nakamura, T; Saionji, K; Tago, K; Tajiri, M; Takano, H, 2002)
"Hyperhomocysteinemia adversely affects fundamental aspects of fetal development, adulthood, and aging, but the role of elevated homocysteine levels in these birth defects and adult diseases remains unclear."3.71Genetic and molecular control of folate-homocysteine metabolism in mutant mice. ( Bale, A; Balling, R; Christensen, B; Colmenares, C; Ernest, S; Gilfix, BM; Hosack, A; Mamer, OA; McGrath, J; Nadeau, JH; Rodier, M; Rosenblatt, DS; Sankoff, D, 2002)
"Proteinuria were a primary presenting symptom, followed by anemia and neurologic symptoms (frequent convulsions and unstable walking, respectively)."1.56Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report. ( Chen, LQ; Chen, RY; Chen, XQ; Li, XZ; Lin, Q; Shen, YY; Wu, HY; Xu, QY; Zhu, XM; Zhu, Y, 2020)
"Screening average-risk adults for vitamin B12 deficiency is not recommended."1.46Vitamin B12 Deficiency: Recognition and Management. ( Goodbred, AJ; Langan, RC, 2017)

Research

Studies (37)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (2.70)18.2507
2000's21 (56.76)29.6817
2010's12 (32.43)24.3611
2020's3 (8.11)2.80

Authors

AuthorsStudies
Wood, WD1
Elmaghrabi, A1
Gotway, G1
Wolf, MTF1
Chen, RY1
Li, XZ1
Lin, Q1
Zhu, Y1
Shen, YY1
Xu, QY1
Zhu, XM1
Chen, LQ1
Wu, HY1
Chen, XQ1
Levy, J1
Rodriguez-Guéant, RM1
Oussalah, A1
Jeannesson, E1
Wahl, D1
Ziuly, S1
Guéant, JL1
Langan, RC1
Goodbred, AJ1
Liu, YP2
Yang, YL3
van Dijk, SC1
Enneman, AW1
van Meurs, J1
Swart, KM1
Ham, AH1
van Wijngaarden, JP1
Brouwer-Brolsma, EM1
van der Zwaluw, NL1
van Schoor, NM1
Dhonukshe-Rutten, RA1
de Groot, LC1
Lips, P1
Uitterlinden, AG1
Blom, H1
Geleijnse, JM1
Feskens, E1
de Jongh, RT1
Smulders, YM1
van den Meiracker, AH1
Mattace-Raso, FU1
van der Velde, N1
Han, B1
Cao, Z1
Tian, L1
Zou, H1
Yang, L1
Zhu, W1
Liu, Y1
Rutsch, F1
Gailus, S1
Miousse, IR2
Suormala, T1
Sagné, C1
Toliat, MR1
Nürnberg, G1
Wittkampf, T1
Buers, I1
Sharifi, A1
Stucki, M1
Becker, C1
Baumgartner, M1
Robenek, H1
Marquardt, T1
Höhne, W1
Gasnier, B1
Rosenblatt, DS4
Fowler, B1
Nürnberg, P1
Wang, F1
Han, LS1
Hu, YH1
Ye, J1
Qiu, WJ1
Zhang, YF1
Gao, XL1
Wang, Y1
Gu, XF1
Garrod, MG1
Allen, LH1
Haan, MN1
Green, R1
Miller, JW1
Carmel, R1
Bellevue, R1
Kelman, Z1
Watkins, D2
Remacha, AF1
Souto, JC1
Piñana, JL1
Sardà, MP1
Queraltó, JM1
Martí-Fabregas, J1
García-Moll, X1
Férnandez, C1
Rodriguez, A1
Cuesta, J1
Lamarre, SG1
Molloy, AM1
Reinke, SN1
Sykes, BD1
Brosnan, ME1
Brosnan, JT1
Karth, P1
Singh, R1
Kim, J1
Costakos, D1
Ma, YY1
Wu, TF1
Wang, Q1
Li, XY1
Ding, Y1
Song, JQ1
Huang, Y1
Møller, J1
Ahola, L1
Abrahamsson, L1
Herrmann, W5
Obeid, R4
Jouma, M1
Hyndman, ME1
Manns, BJ1
Snyder, FF1
Bridge, PJ1
Scott-Douglas, NW1
Fung, E1
Parsons, HG1
Arnadottir, M1
Hultberg, B2
Nilsson, K1
Isaksson, A1
Gustafson, L1
Schorr, H3
Zarzour, W1
Geisel, J4
Hoffer, LJ3
Elian, KM2
Miriuka, SG1
Langman, LJ1
Keren, ES1
Miner, SE1
Mamer, OA3
Delgado, DH1
Evrovski, J1
Ross, HJ1
Cole, DE1
Hübner, U2
Koch, I1
Retzke, U1
Boxer, AL1
Kramer, JH1
Johnston, K1
Goldman, J1
Finley, R1
Miller, BL1
Solomon, LR1
Stabler, SP1
Estacio, R1
Jeffers, BW1
Cohen, JA1
Allen, RH1
Schrier, RW1
Kaplan, LN1
Refsum, H1
Yajnik, CS1
Gadkari, M1
Schneede, J1
Vollset, SE1
Orning, L1
Guttormsen, AB1
Joglekar, A1
Sayyad, MG1
Ulvik, A1
Ueland, PM2
Zimbelmann, I1
Knapp, JP1
Bodis, M1
Bjørke Monsen, AL1
Nakamura, T1
Saionji, K1
Hiejima, Y1
Hirayama, H1
Tago, K1
Takano, H1
Tajiri, M1
Hayashi, K1
Kawabata, M1
Funamizu, M1
Makita, Y1
Hata, A1
Ernest, S1
Christensen, B1
Gilfix, BM1
Hosack, A1
Rodier, M1
Colmenares, C1
McGrath, J1
Bale, A1
Balling, R1
Sankoff, D1
Nadeau, JH1

Reviews

1 review available for methylmalonic acid and Hyperhomocysteinemia

ArticleYear
[Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2013, Volume: 51, Issue:4

    Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Betaine; Carrier Proteins; Child; China;

2013

Trials

7 trials available for methylmalonic acid and Hyperhomocysteinemia

ArticleYear
B-vitamin levels and genetics of hyperhomocysteinemia are not associated with arterial stiffness.
    Nutrition, metabolism, and cardiovascular diseases : NMCD, 2014, Volume: 24, Issue:7

    Topics: Aged; Aged, 80 and over; Blood Pressure; Body Mass Index; Creatinine; Cross-Sectional Studies; Doubl

2014
Vitamin B12 decreases, but does not normalize, homocysteine and methylmalonic acid in end-stage renal disease: a link with glycine metabolism and possible explanation of hyperhomocysteinemia in end-stage renal disease.
    Metabolism: clinical and experimental, 2003, Volume: 52, Issue:2

    Topics: Cysteine; Genotype; Glycine; Homocysteine; Humans; Hyperhomocysteinemia; Kidney Failure, Chronic; Me

2003
The effect of vitamin B12 on total plasma homocysteine concentration in folate-replete hemodialysis patients.
    Clinical nephrology, 2003, Volume: 59, Issue:3

    Topics: Female; Folic Acid; Homocysteine; Humans; Hyperhomocysteinemia; Male; Methylmalonic Acid; Middle Age

2003
Effects of folic acid fortification and multivitamin therapy on homocysteine and vitamin B(12) status in cardiac transplant recipients.
    The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation, 2004, Volume: 23, Issue:4

    Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Canada; Cohort Studies; Dietary Su

2004
Total homocysteine is associated with nephropathy in non-insulin-dependent diabetes mellitus.
    Metabolism: clinical and experimental, 1999, Volume: 48, Issue:9

    Topics: Adult; Aged; Albuminuria; Cystathionine; Diabetes Mellitus, Type 2; Diabetic Nephropathies; Female;

1999
Parenteral vitamin B12 reduces hyperhomocysteinemia in end-stage renal disease.
    Clinical and investigative medicine. Medecine clinique et experimentale, 2001, Volume: 24, Issue:1

    Topics: Cysteine; Homocysteine; Humans; Hyperhomocysteinemia; Injections, Subcutaneous; Kidney Failure, Chro

2001
Hydroxocobalamin reduces hyperhomocysteinemia in end-stage renal disease.
    Metabolism: clinical and experimental, 2002, Volume: 51, Issue:7

    Topics: Aged; Female; Folic Acid; Homocysteine; Humans; Hydroxocobalamin; Hyperhomocysteinemia; Injections,

2002

Other Studies

29 other studies available for methylmalonic acid and Hyperhomocysteinemia

ArticleYear
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
    Pediatric nephrology (Berlin, Germany), 2022, Volume: 37, Issue:6

    Topics: Acute Kidney Injury; Amino Acid Metabolism, Inborn Errors; Atypical Hemolytic Uremic Syndrome; Femal

2022
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.
    BMC medical genetics, 2020, 09-21, Volume: 21, Issue:1

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Base Sequence; Carnitine; Child, Pres

2020
Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients.
    The American journal of clinical nutrition, 2021, 05-08, Volume: 113, Issue:5

    Topics: Adult; Cardiovascular Diseases; Child, Preschool; Cross-Sectional Studies; Female; Folic Acid; Folic

2021
Vitamin B12 Deficiency: Recognition and Management.
    American family physician, 2017, Sep-15, Volume: 96, Issue:6

    Topics: Humans; Hyperhomocysteinemia; Methylmalonic Acid; Risk Factors; Vitamin B 12; Vitamin B 12 Deficienc

2017
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
    Brain & development, 2016, Volume: 38, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Carrier Proteins; China; DNA Mutational Analysis; Female; Gene

2016
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
    Nature genetics, 2009, Volume: 41, Issue:2

    Topics: Child; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 6; Female; HeLa Cells; Huma

2009
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2009, Volume: 47, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Cysteine; DNA; DNA Mutational Analysis; Exons; Humans; Hyperho

2009
Transcobalamin C776G genotype modifies the association between vitamin B12 and homocysteine in older Hispanics.
    European journal of clinical nutrition, 2010, Volume: 64, Issue:5

    Topics: Aged; Aging; Analysis of Variance; California; Female; Genotype; Health Surveys; Hispanic or Latino;

2010
Low cobalamin levels associated with sickle cell disease: Contrasting origins and clinical meanings in two instructive patients.
    American journal of hematology, 2010, Volume: 85, Issue:6

    Topics: Adult; Anemia, Pernicious; Anemia, Sickle Cell; Autoantibodies; Depression; Female; Folic Acid; Gast

2010
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
    Molecular genetics and metabolism, 2011, Volume: 102, Issue:4

    Topics: Exons; Frameshift Mutation; Genetic Association Studies; Genetic Testing; Heterozygote; Humans; Hype

2011
Inborn errors of cobalamin absorption and metabolism.
    American journal of medical genetics. Part C, Seminars in medical genetics, 2011, Feb-15, Volume: 157C, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Cobamides; Homocysteine; Humans; Hyperh

2011
Vitamin B12 deficiency, hyperhomocysteinemia and thrombosis: a case and control study.
    International journal of hematology, 2011, Volume: 93, Issue:4

    Topics: Adult; Aged; Case-Control Studies; Female; Folic Acid; Homocysteine; Humans; Hyperhomocysteinemia; M

2011
Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration.
    American journal of physiology. Endocrinology and metabolism, 2012, Jan-01, Volume: 302, Issue:1

    Topics: Animals; Biomarkers; Brain; Folic Acid Deficiency; Formates; Homocysteine; Hyperhomocysteinemia; Liv

2012
Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia.
    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2012, Volume: 16, Issue:4

    Topics: Humans; Hydroxocobalamin; Hyperhomocysteinemia; Infant; Injections, Intramuscular; Male; Methylmalon

2012
[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2012, Volume: 50, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; China; Female; Folic Acid;

2012
Evaluation of the DPC IMMULITE 2000 assay for total homocysteine in plasma.
    Scandinavian journal of clinical and laboratory investigation, 2002, Volume: 62, Issue:5

    Topics: Chemistry, Clinical; Evaluation Studies as Topic; Homocysteine; Humans; Hyperhomocysteinemia; Immuno

2002
Hyperhomocysteinemia and vitamin B-12 deficiency are more striking in Syrians than in Germans--causes and implications.
    Atherosclerosis, 2003, Volume: 166, Issue:1

    Topics: Adult; Arabs; Cholesterol, LDL; Coronary Disease; Female; Germany; Homocysteine; Humans; Hyperhomocy

2003
Folate deficiency is a common finding in psychogeriatric patients.
    Aging clinical and experimental research, 2002, Volume: 14, Issue:6

    Topics: Aged; Aged, 80 and over; Aging; Cognition Disorders; Female; Folic Acid; Folic Acid Deficiency; Homo

2002
Homocysteine, methylenetetrahydrofolate reductase C677T polymorphism and the B-vitamins: a facet of nature-nurture interplay.
    Clinical chemistry and laboratory medicine, 2003, Volume: 41, Issue:4

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Female; Folic Acid; Homocysteine; Humans; Hyperhomocyste

2003
Vitamin B-12 status, particularly holotranscobalamin II and methylmalonic acid concentrations, and hyperhomocysteinemia in vegetarians.
    The American journal of clinical nutrition, 2003, Volume: 78, Issue:1

    Topics: Adult; Aged; Biomarkers; Diet, Vegetarian; Female; Folic Acid; Homocysteine; Humans; Hyperhomocystei

2003
Parenteral vitamin B12 therapy of hyperhomocysteinemia in end-stage renal disease.
    Clinical and investigative medicine. Medecine clinique et experimentale, 2004, Volume: 27, Issue:1

    Topics: Administration, Oral; Aged; Folic Acid; Humans; Hyperhomocysteinemia; Kidney Failure, Chronic; Methy

2004
Alteration of homocysteine catabolism in pre-eclampsia, HELLP syndrome and placental insufficiency.
    Clinical chemistry and laboratory medicine, 2004, Volume: 42, Issue:10

    Topics: Cystathionine; Cystatin C; Cystatins; Female; Folic Acid; HELLP Syndrome; Homocysteine; Humans; Hype

2004
Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment.
    Neurology, 2005, Apr-26, Volume: 64, Issue:8

    Topics: Adult; Anticoagulants; Betaine; Cognition Disorders; Confusion; Disease Progression; Drug Therapy, C

2005
Oral pharmacologic doses of cobalamin may not be as effective as parenteral cobalamin therapy in reversing hyperhomocystinemia and methylmalonic acidemia in apparently normal subjects.
    Clinical and laboratory haematology, 2006, Volume: 28, Issue:4

    Topics: Administration, Oral; Female; Humans; Hyperhomocysteinemia; Injections, Intramuscular; Methylenetetr

2006
Hyperhomocysteinemia and elevated methylmalonic acid indicate a high prevalence of cobalamin deficiency in Asian Indians.
    The American journal of clinical nutrition, 2001, Volume: 74, Issue:2

    Topics: Adult; Biomarkers; Cardiovascular Diseases; Diabetes Mellitus; Diet, Vegetarian; Female; Folic Acid;

2001
Genetic defects as important factors for moderate hyperhomocysteinemia.
    Clinical chemistry and laboratory medicine, 2001, Volume: 39, Issue:8

    Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Age Factors; Aged; Aged, 80 and ov

2001
Total homocysteine is making its way into pediatric laboratory diagnostics.
    European journal of clinical investigation, 2001, Volume: 31, Issue:11

    Topics: Adult; Avitaminosis; Child; Diagnosis, Differential; Female; Folic Acid; Folic Acid Deficiency; HIV

2001
Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients.
    American journal of kidney diseases : the official journal of the National Kidney Foundation, 2002, Volume: 39, Issue:5

    Topics: Cross-Sectional Studies; Dietary Supplements; Female; Folic Acid; Folic Acid Deficiency; Genotype; H

2002
Genetic and molecular control of folate-homocysteine metabolism in mutant mice.
    Mammalian genome : official journal of the International Mammalian Genome Society, 2002, Volume: 13, Issue:5

    Topics: Animals; Blotting, Northern; Disease Models, Animal; Female; Folic Acid; Gene Expression Regulation;

2002