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As a consequence of the biochemical reactions in which homocysteine is involved, deficiencies of
[[vitamin B6|vitamin B<sub>6</sub>]], [[folic acid]] (vitamin B<sub>9</sub>), and [[Cobalamin|vitamin B<sub>12</sub>]] can lead to high homocysteine levels.<ref name="Miller-p1033-9">{{cite journal |pmid=8172087 |year=1994 |last1=Miller |first1=J. W. |title=Vitamin B-6 deficiency vs folate deficiency: Comparison of responses to methionine loading in rats |journal=The American Journal of Clinical Nutrition |volume=59 |issue=5 |pages=1033–9 |last2=Nadeau |first2=M. R. |last3=Smith |first3=D |last4=Selhub |first4=J |doi=10.1093/ajcn/59.5.1033}}</ref> Other possible causes of hyperhomocysteinemia include genetics, excessive [[methionine]] intake, and other diseases.
Hyperhomocysteinemia is typically managed with vitamin B<sub>6</sub>, vitamin B<sub>9</sub> and vitamin B<sub>12</sub> supplementation.<ref name="ExpertOpPharm2001-Coen">{{cite journal |doi=10.1517/14656566.2.9.1449 |pmid=11585023 |title=Homocysteine-lowering treatment: An overview |journal=Expert Opinion on Pharmacotherapy |volume=2 |issue=9 |pages=1449–60 |year=2005 |last1=Stehouwer |first1=Coen DA |last2=Guldener |first2=Coen van |s2cid=45945199 }}</ref> Hyperhomocysteinemia is a risk factor for cardiovascular disease; however, supplements of these vitamins may not improve cardiovascular disease outcomes.<ref name="Art2015">{{cite journal|last1=Martí-Carvajal|first1=Arturo J.|last2=Solà|first2=Ivan|last3=Lathyris|first3=Dimitrios|date=15 January 2015|editor1-last=Martí-Carvajal|editor1-first=Arturo J|title=Homocysteine-lowering interventions for preventing cardiovascular events|journal=The Cochrane Database of Systematic Reviews|volume=1|pages=CD006612|doi=10.1002/14651858.CD006612.pub4|issn=1469-493X|pmc=4164174|pmid=25590290}}</ref>
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=== Ectopia lentis ===
[[Homocystinuria]] is the second most common cause of heritable [[ectopia lentis]]. Homocystinuria is an autosomal recessive metabolic disorder most often caused by a near absence of cystathionine b-synthetase. It is associated with intellectual disability, osteoporosis, chest deformities, and increased risk of thrombotic episodes. Lens dislocation occurs in 90% of patients, and is thought to be due to decreased zonular integrity due to the enzymatic defect. Lens dislocation in homocystinuria is usually bilateral and in 60% of cases occurs in the inferior or nasal direction.{{
== Causes ==
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== Diagnosis ==
A blood test can be performed to quantify total homocysteine concentration in the plasma, of which approximately 80% is generally protein-bound. Classification of hyperhomocysteinemia is defined with respect to serum concentration as follows:{{
* Moderate: 15–30 nmol/mL (or μmol/L)
* Intermediate: 30–100 nmol/mL
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| SNOMED CT = 419503008
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{{Amino acid metabolic pathology}}
{{Authority control}}
[[Category:Amino acid metabolism disorders]]
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