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Methionine.pdf
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🔗 Source: acmg.net
📊 Size: 154 KB
👤 Author: Megan Lyon
⬇️ Downloads: 67

Summary

Homocystinuria is a group of inherited disorders with elevated homocysteine levels in urine, caused by the inability to convert homocysteine to cystathionine. Newborns are usually asymptomatic, but if untreated, may develop ectopia lentis, developmental delay, and increased risk of thrombosis. Diagnostic evaluation includes plasma and urine amino acid tests, and molecular genetic testing. Treatment involves a protein-restricted diet and vitamin supplementation. Differential diagnosis includes methionine adenosyltransferase deficiency, glycine N-methyltransferase deficiency, and adenosylhomocysteine hydrolase deficiency.

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Description

Homocystinuria is a group of inherited disorders with elevated homocysteine levels in urine, caused by the inability to convert homocysteine to cystathionine.

Technical Information

  • File Format: PDF
  • File Size: 154 KB
  • Pages: 2
  • Language: EN
  • Author: Megan Lyon
  • Total Downloads: 67
  • Last Updated: 2 months ago

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