Related Experiment Video
Updated: Aug 16, 2026

09:37
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Homocystinuria: what about mild hyperhomocysteinaemia?
1Department of Vascular Surgery, Free University Hospital, Amsterdam, Netherlands.
Postgraduate Medical Journal
|September 1, 1996
Summary
High homocysteine levels (hyperhomocysteinaemia) significantly increase the risk of vascular diseases and blood clots. Simple vitamin treatments can lower these levels, suggesting screening may be beneficial.
Area of Science:
- Cardiovascular Medicine
- Metabolic Disorders
- Clinical Research
Background:
- Hyperhomocysteinaemia is a known risk factor for atherosclerotic vascular disease and thromboembolism.
- Elevated homocysteine levels are linked to vascular disease irrespective of the cause.
- Mild hyperhomocysteinaemia affects a significant percentage of young patients with various vascular conditions.
Purpose of the Study:
- To summarize the association between hyperhomocysteinaemia and vascular disease.
- To highlight the increased risk of vascular events in individuals with elevated homocysteine.
- To discuss the potential of simple interventions to manage this risk factor.
Main Methods:
- Pooled analysis of data from numerous studies on homocysteine levels and vascular disease.
- Calculation of odds ratios to estimate relative risk.
- Review of existing knowledge on homocysteine metabolism and treatment.
Main Results:
- Mild hyperhomocysteinaemia is prevalent in young patients with coronary (21%), cerebrovascular (24%), and peripheral (32%) vascular disease.
- An abnormal methionine load response indicates a 13.0-fold increased relative risk of early-onset vascular disease.
- Mild hyperhomocysteinaemia increases the risk of recurrent venous thrombosis two- to threefold.
Conclusions:
- Elevated homocysteine is a significant risk factor for vascular disease and thromboembolism.
- Simple and safe treatments involving vitamin B6, folic acid, and betaine can normalize homocysteine levels.
- Further investigation into the clinical benefits of these interventions may warrant large-scale screening for hyperhomocysteinaemia.
Related Concept Videos
Urea Cycle
The urea cycle describes how liver cells convert ammonia to urea. Ammonia is a toxic waste product of protein catabolism. Land animals must convert ammonia into the less toxic urea which can be safely eliminated by the kidneys through urine. Marine animals excrete ammonia directly, and the surrounding water dilutes the ammonia to safe levels.
Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers
Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
Serum Studies: Renal Function Tests
Renal function tests are crucial for assessing kidney health, monitoring disease progression, and evaluating the kidneys' efficiency in waste elimination, fluid balance, and electrolyte regulation. These tests offer critical insights into kidney function, even though routine measurements may appear normal until there is a significant decline in the glomerular filtration rate or GFR. Typically, signs of kidney impairment only become evident when the GFR falls to about 50% of its normal level.
Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Jaundice
Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...

