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Homocysteinemia

MedGen UID:
501175
•Concept ID:
C3495426
•
Disease or Syndrome

Professional guidelines

PubMed

Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan.
Ahmed S, Akbar F, DeBerardinis RJ, Ni M, Afroze B
J Pediatr Endocrinol Metab 2023 Aug 28;36(8):761-771. Epub 2023 Jul 13 doi: 10.1515/jpem-2023-0083. PMID: 37440674
Hyperhomocysteinemia: related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues.
Iacobazzi V, Infantino V, Castegna A, Andria G
Mol Genet Metab 2014 Sep-Oct;113(1-2):27-33. Epub 2014 Jul 21 doi: 10.1016/j.ymgme.2014.07.016. PMID: 25087163
Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.
Bonnot O, Klünemann HH, Sedel F, Tordjman S, Cohen D, Walterfang M
Orphanet J Rare Dis 2014 Apr 28;9:65. doi: 10.1186/1750-1172-9-65. PMID: 24775716Free PMC Article

Recent clinical studies

Etiology

Sulfur-Containing Amino Acids and Lipid Metabolism.
Blachier F, Andriamihaja M, Blais A
J Nutr 2020 Oct 1;150(Suppl 1):2524S-2531S. doi: 10.1093/jn/nxaa243. PMID: 33000164
The Effects of Homocysteine on the Skeleton.
Saito M, Marumo K
Curr Osteoporos Rep 2018 Oct;16(5):554-560. doi: 10.1007/s11914-018-0469-1. PMID: 30116976
Nutrition and stroke.
Huang CY
Asia Pac J Clin Nutr 2007;16 Suppl 1:266-74. PMID: 17392117
Hyperhomocysteinemia and thrombosis.
Guba SC, Fonseca V, Fink LM
Semin Thromb Hemost 1999;25(3):291-309. doi: 10.1055/s-2007-994932. PMID: 10443960
Megaloblastic anemias.
Carmel R
Curr Opin Hematol 1994 Mar;1(2):107-12. PMID: 9371268

Diagnosis

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.
Liu Y, Ma X, Chen Z, He R, Zhang Y, Dong H, Ma Y, Wu T, Wang Q, Ding Y, Li X, Li D, Song J, Li M, Jin Y, Qin J, Yang Y
Orphanet J Rare Dis 2024 Apr 12;19(1):159. doi: 10.1186/s13023-024-03148-3. PMID: 38610036Free PMC Article
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
Arhip L, Brox-Torrecilla N, Romero I, Motilla M, Serrano-Moreno C, Miguélez M, Cuerda C
Orphanet J Rare Dis 2024 Jan 20;19(1):20. doi: 10.1186/s13023-024-03021-3. PMID: 38245797Free PMC Article
Relationship between ambulatory arterial stiffness index and the severity of angiographic atherosclerosis in patients with H-type hypertension and coronary artery disease.
Dong L, Liu J, Qin Y, Yang WJ, Nie L, Liu HN, Hu QH, Sun Y, Cao WY
Clin Exp Hypertens 2023 Dec 31;45(1):2228517. doi: 10.1080/10641963.2023.2228517. PMID: 37358029
Late-onset methylmalonic acidemia and homocysteinemia.
Brox-Torrecilla N, Arhip L, Miguélez-González M, Castellano-Gasch S, Contreras-Chicote A, Rodríguez-Ferrero ML, Motilla de la Cámara ML, Serrano-Moreno C, Cuerda Compes C
Nutr Hosp 2021 Jul 29;38(4):871-875. doi: 10.20960/nh.03623. PMID: 34132563
Clinical spectrum and diagnosis of homocysteinemia.
Gambhir DS, Gambhir JK
Indian Heart J 2000 Nov-Dec;52(7 Suppl):S27-30. PMID: 11339437

Therapy

Folic acid and plasma lipids: Interactions and effect of folate supplementation.
Fogacci F, Pizzi C, Bergamaschi L, Di Micoli V, Cicero AFG
Curr Probl Cardiol 2024 Jun;49(6):102539. Epub 2024 Mar 21 doi: 10.1016/j.cpcardiol.2024.102539. PMID: 38521293
Nutrition and stroke.
Huang CY
Asia Pac J Clin Nutr 2007;16 Suppl 1:266-74. PMID: 17392117
Homocysteine and post-angioplasty restenosis.
Ambrosi P
Nutr Metab Cardiovasc Dis 2003 Dec;13(6):391-7. doi: 10.1016/s0939-4753(03)80009-1. PMID: 14979687
Homocysteine and essential hypertension.
Rodrigo R, Passalacqua W, Araya J, Orellana M, Rivera G
J Clin Pharmacol 2003 Dec;43(12):1299-306. doi: 10.1177/0091270003258190. PMID: 14615465
Methylcobalamin.
Altern Med Rev 1998 Dec;3(6):461-3. PMID: 9855571

Prognosis

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.
Liu Y, Chen Z, Kang L, He R, Song J, Liu Y, Shi C, Chen J, Dong H, Zhang Y, Ma Y, Wu T, Wang Q, Ding Y, Li X, Li D, Li M, Jin Y, Qin J, Yang Y
PLoS One 2022;17(3):e0265766. Epub 2022 Mar 31 doi: 10.1371/journal.pone.0265766. PMID: 35358224Free PMC Article
Nitrous oxide-induced predominantly motor neuropathies: a follow-up study.
Berling E, Fargeot G, Aure K, Tran TH, Kubis N, Lozeron P, Zanin A
J Neurol 2022 May;269(5):2720-2726. Epub 2021 Nov 6 doi: 10.1007/s00415-021-10858-2. PMID: 34741241
The association between retinal vessel abnormalities and H-type hypertension.
Huang K, Zhang Z, Huang S, Jia Y, Zhang M, Yun W
BMC Neurol 2021 Jan 6;21(1):6. doi: 10.1186/s12883-020-02029-z. PMID: 33407217Free PMC Article
Homocysteine, vitamin determinants and neurological diseases.
Ientile R, Curro' M, Ferlazzo N, Condello S, Caccamo D, Pisani F
Front Biosci (Schol Ed) 2010 Jan 1;2(1):359-72. doi: 10.2741/s70. PMID: 20036953
Homocysteinemia: association of a metabolic disorder with vascular disease and thrombosis.
Rees MM, Rodgers GM
Thromb Res 1993 Sep 1;71(5):337-59. doi: 10.1016/0049-3848(93)90160-p. PMID: 8236162

Clinical prediction guides

Folic acid and plasma lipids: Interactions and effect of folate supplementation.
Fogacci F, Pizzi C, Bergamaschi L, Di Micoli V, Cicero AFG
Curr Probl Cardiol 2024 Jun;49(6):102539. Epub 2024 Mar 21 doi: 10.1016/j.cpcardiol.2024.102539. PMID: 38521293
Clinical and laboratory findings and etiologies of genetic homocystinemia: a single-center experience.
Besen S, Ozkale Y, Ceylaner S, Noyan A, Erol I
Acta Neurol Belg 2024 Feb;124(1):213-222. Epub 2023 Sep 20 doi: 10.1007/s13760-023-02356-1. PMID: 37728847
Relationship between ambulatory arterial stiffness index and the severity of angiographic atherosclerosis in patients with H-type hypertension and coronary artery disease.
Dong L, Liu J, Qin Y, Yang WJ, Nie L, Liu HN, Hu QH, Sun Y, Cao WY
Clin Exp Hypertens 2023 Dec 31;45(1):2228517. doi: 10.1080/10641963.2023.2228517. PMID: 37358029
Endothelial Dysfunction and Altered Coagulation As Mediators of Thromboembolism in Behçet Disease.
Butta NV, Fernández-Bello I, López-Longo FJ, Jiménez-Yuste V
Semin Thromb Hemost 2015 Sep;41(6):621-8. Epub 2015 Aug 15 doi: 10.1055/s-0035-1556727. PMID: 26276934
Homocysteinemia as a risk factor for atherosclerosis: a review.
Nehler MR, Taylor LM Jr, Porter JM
Cardiovasc Surg 1997 Dec;5(6):559-67. doi: 10.1016/s0967-2109(97)00062-8. PMID: 9423939

Recent systematic reviews

Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
Arhip L, Brox-Torrecilla N, Romero I, Motilla M, Serrano-Moreno C, Miguélez M, Cuerda C
Orphanet J Rare Dis 2024 Jan 20;19(1):20. doi: 10.1186/s13023-024-03021-3. PMID: 38245797Free PMC Article
The association between serum homocysteine and depression: A systematic review and meta-analysis of observational studies.
Moradi F, Lotfi K, Armin M, Clark CCT, Askari G, Rouhani MH
Eur J Clin Invest 2021 May;51(5):e13486. Epub 2021 Jan 22 doi: 10.1111/eci.13486. PMID: 33423269
A systematic review and integrative approach to decode the common molecular link between levodopa response and Parkinson's disease.
Guin D, Mishra MK, Talwar P, Rawat C, Kushwaha SS, Kukreti S, Kukreti R
BMC Med Genomics 2017 Sep 19;10(1):56. doi: 10.1186/s12920-017-0291-0. PMID: 28927418Free PMC Article
Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.
Bonnot O, Klünemann HH, Sedel F, Tordjman S, Cohen D, Walterfang M
Orphanet J Rare Dis 2014 Apr 28;9:65. doi: 10.1186/1750-1172-9-65. PMID: 24775716Free PMC Article

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