Homocystinuria
Updates to Article Attributes
Homocystinuria is a rare congenital disorder of metabolism.
Clinical featurespresentation
The disease may affect allone or onemore of the systems below 1,2:
-
Eyeeye: ectopia lentis - CNS: seizures, dystonia, developmental delay
-
Skeletalskeletal: scoliosis, pectus excavatum, long limbs -
Vascularvascular: thromboembolism
Pathology
A deficiency of the enzyme cystathionine-β-synthase causes classic homocysteinuria where byhomocystinuria whereby the metabolism of homocysteine to methionine is affected. It is inherited in a autosomal recessive fashion. Other forms of secondary homocystinuria can be seen in the other rare inborn metabolism disorders (eg(e.g. methylenetetrahydrofolate reductase deficiency) 1.
Markers
High levels of plasma total homocysteine and methionine are present 1. New bornNeonatal screening heel-prick tests typically include homocysteinuria testingtesting for homocystinuria.
Genetic testing
Genetic testing can be used to confirm homocysteinuria.
Radiographic features
No radiographic features are specific for homocystinuria and the diagnosis is made through genetic and laboratory testing. Rarely, some associations of the disease may be visible on imaging (eg(e.g. spontaneous pneumothorax or thromboembolism) 1-3.
PrognosisTreatment and treatmentprognosis
Mortality in homocystinuria mostly occurs from premature cardiovascular disease 1.
Differential diagnosis
-<p><strong>Homocystinuria</strong> is a rare congenital disorder of metabolism. </p><h4>Clinical features</h4><p>The disease may affect all or one of the systems below <sup>1,2</sup>:</p><ul>-<li>Eye: <a title="Ectopia lentis" href="/articles/ectopia-lentis">ectopia lentis</a>- +<p><strong>Homocystinuria</strong> is a rare congenital disorder of metabolism. </p><h4>Clinical presentation</h4><p>The disease may affect one or more of the systems below <sup>1,2</sup>:</p><ul>
- +<li>eye: <a href="/articles/ectopia-lentis">ectopia lentis</a>
-<li>Skeletal: scoliosis, <a title="Pectus excavatum" href="/articles/pectus-excavatum">pectus excavatum</a>, long limbs</li>-<li>Vascular: <a title="Venous thromboembolism" href="/articles/venous-thromboembolism">thromboembolism</a>- +<li>skeletal: scoliosis, <a href="/articles/pectus-excavatum">pectus excavatum</a>, long limbs</li>
- +<li>vascular: <a href="/articles/venous-thromboembolism">thromboembolism</a>
-</ul><h4>Pathology</h4><p>A deficiency of the enzyme cystathionine β-synthase causes classic homocysteinuria where by the metabolism of homocysteine to methionine is affected. It is inherited in a autosomal recessive fashion. Other forms of secondary homocystinuria can be seen in the other rare inborn metabolism disorders (eg. methylenetetrahydrofolate reductase deficiency) <sup>1</sup>. </p><h5>Markers</h5><p>High levels of plasma total homocysteine and methionine are present <sup>1</sup>. New born screening heel-prick tests typically include homocysteinuria testing.</p><h5>Genetic testing</h5><p>Genetic testing can be used to confirm homocysteinuria.</p><h4>Radiographic features</h4><p>No radiographic features are specific for homocystinuria and the diagnosis is made through genetic and laboratory testing. Rarely, some associations of the disease may be visible on imaging (eg. spontaneous <a title="Pneumothorax" href="/articles/pneumothorax">pneumothorax</a> or thromboembolism) <sup>1-3</sup>.</p><h4>Prognosis and treatment</h4><p>Mortality in homocystinuria mostly occurs from premature cardiovascular disease <sup>1</sup>.</p><h4>Differential diagnosis</h4><ul><li><a title="Marfan syndrome" href="/articles/marfan-syndrome">Marfan syndrome</a></li></ul><p> </p>- +</ul><h4>Pathology</h4><p>A deficiency of the enzyme cystathionine-β-synthase causes classic homocystinuria whereby the metabolism of homocysteine to methionine is affected. It is inherited in a autosomal recessive fashion. Other forms of secondary homocystinuria can be seen in other rare inborn metabolism disorders (e.g. methylenetetrahydrofolate reductase deficiency) <sup>1</sup>. </p><h5>Markers</h5><p>High levels of plasma total homocysteine and methionine are present <sup>1</sup>. Neonatal screening heel-prick tests typically include testing for homocystinuria.</p><h5>Genetic testing</h5><p>Genetic testing can be used to confirm homocysteinuria.</p><h4>Radiographic features</h4><p>No radiographic features are specific for homocystinuria and the diagnosis is made through genetic and laboratory testing. Rarely, some associations of the disease may be visible on imaging (e.g. spontaneous <a href="/articles/pneumothorax">pneumothorax</a> or thromboembolism) <sup>1-3</sup>.</p><h4>Treatment and prognosis</h4><p>Mortality in homocystinuria mostly occurs from premature cardiovascular disease <sup>1</sup>.</p><h4>Differential diagnosis</h4><ul><li><a href="/articles/marfan-syndrome">Marfan syndrome</a></li></ul><p> </p>
Sections changed:
Systems changed:
- Central Nervous System
- Musculoskeletal
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