Health Library

The Health Library is a collection of health and wellness resources created for learning and accessibility. Select a topic below for related health information or search for a topic in the search bar for more information on other medical conditions.

Homocystinuria

Condition Basics

What is homocystinuria?

Homocystinuria is a rare inherited disease that causes a deficiency of one of several enzymes needed for the breakdown of food (metabolism). This enzyme deficiency may cause a buildup of homocysteine in the blood. Excess homocysteine may be released in the urine.

What happens when you have homocystinuria?

Babies born with homocystinuria may fail to grow and gain weight (failure to thrive) and may experience developmental delays. People with homocystinuria may develop diseases of the heart and blood vessels at a young age. If homocystinuria is not diagnosed in infancy, other problems may develop, including:

  • Partial dislocation of the lens of the eyes (ectopia lentis).
  • Severe nearsightedness (myopia).
  • Progressive intellectual disability.
  • Seizures.
  • Psychiatric problems.
  • Skeletal problems (such as scoliosis, osteoporosis, or protrusion or depression of the breastbone).
  • Formation of blood clots in deep veins (deep venous thrombosis, or DVT).
  • Stroke.

People with homocystinuria may have a thin appearance, with long, slender arms, legs, fingers, and toes.

How is it treated?

Treatment for homocystinuria may include eating foods low in certain amino acids and taking vitamin supplements and medicine to enhance the breakdown of homocysteine.

Related Information

Credits

Current as of: November 22, 2021

Author: Healthwise Staff
Medical Review:
E. Gregory Thompson MD - Internal Medicine
Adam Husney MD - Family Medicine
Martin J. Gabica MD - Family Medicine

This information does not replace the advice of a doctor. Healthwise, Incorporated, disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. Learn how we develop our content.