Homocystinuria

Homocystinuria is an inherited disorder of methionine metabolism that causes high homocysteine levels. Untreated, it leads to skeletal abnormalities, eye problems, developmental issues, and thromboembolism.

Table of Contents

Features

  • Lens dislocation
  • Tall stature, long limbs (similar to Marfan)
  • Developmental delay
  • Blood clots
  • Osteoporosis

Treatment

  • Pyridoxine (B6) supplementation
  • Methionine-restricted diet
  • Betaine supplementation
  • Folate and B12
  • Newborn screening allows early diagnosis

Related Conditions

Hyperhomocysteinemia

Acquired form
Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you are experiencing a medical emergency, call your local emergency number immediately.

References

  • NIH. Homocystinuria Resources.