PMID- 33100834 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20201028 IS - 1179-5735 (Print) IS - 1179-5735 (Electronic) IS - 1179-5735 (Linking) VI - 12 DP - 2020 TI - Hyperhomocysteinemia: Clinical Insights. PG - 1179573520962230 LID - 10.1177/1179573520962230 [doi] LID - 1179573520962230 AB - Homocysteine (Hcy) is a sulfhydryl-containing amino acid, and intermediate metabolite formed in metabolising methionine (Met) to cysteine (Cys); defective Met metabolism can increase Hcy. The effect of hyperhomocysteinemia (HHcy) on human health, is well described and associated with multiple clinical conditions. HHcy is considered to be an independent risk factor for common cardiovascular and central nervous disorders, where its role in folate metabolism and choline catabolism is fundamental in many metabolic pathways. HHcy induces inflammatory responses via increasing the pro-inflammatory cytokines and downregulation of anti-inflammatory cytokines which lead to Hcy-induced cell apoptosis. Conflicting evidence indicates that the development of the homocysteine-associated cerebrovascular disease may be prevented by the maintenance of normal Hcy levels. In this review, we discuss common conditions associated with HHcy and biochemical diagnostic workup that may help in reaching diagnosis at early stages. Furthermore, future systematic studies need to prove the exact pathophysiological mechanism of HHcy at the cellular level and the effect of Hcy lowering agents on disease courses. CI - (c) The Author(s) 2020. FAU - Al Mutairi, Fuad AU - Al Mutairi F AUID- ORCID: 0000-0002-7780-8863 AD - Medical Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia. AD - King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. AD - King Abdullah International Medical Research Centre, Riyadh, Saudi Arabia. LA - eng PT - Journal Article PT - Review DEP - 20201009 PL - United States TA - J Cent Nerv Syst Dis JT - Journal of central nervous system disease JID - 101595026 PMC - PMC7549175 OTO - NOTNLM OT - Homocysteine OT - cobalamin OT - folate OT - homocystinurea OT - methylenetetrahydrofolate reductase OT - vitamin B-12 COIS- Declaration of conflicting interests:The author declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. EDAT- 2020/10/27 06:00 MHDA- 2020/10/27 06:01 PMCR- 2020/10/09 CRDT- 2020/10/26 05:20 PHST- 2020/06/23 00:00 [received] PHST- 2020/09/06 00:00 [accepted] PHST- 2020/10/26 05:20 [entrez] PHST- 2020/10/27 06:00 [pubmed] PHST- 2020/10/27 06:01 [medline] PHST- 2020/10/09 00:00 [pmc-release] AID - 10.1177_1179573520962230 [pii] AID - 10.1177/1179573520962230 [doi] PST - epublish SO - J Cent Nerv Syst Dis. 2020 Oct 9;12:1179573520962230. doi: 10.1177/1179573520962230. eCollection 2020.