- 25% chance the child will be born with the disorder
- 50% chance the child will be a carrier of the faulty gene
- Nearsightedness and other visual problems
- Flush across the cheeks, fair complexion
- Tall, thin build
- Delays in growth
- Long limbs
- High-arched feet
- Abnormal formation of the rib cage
- Protrusion of the chest over the sternum
- Developmental delays
- Intellectual disability
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- X-rays to look for bone problems
- An eye exam to look for eye problems
- Restricts foods with methionine
- Consists mainly of fruits and vegetables
- Allows little, if any, meats, eggs, dairy products, breads, and pastas
Genetics Home Reference http://ghr.nlm.nih.gov
National Organization for Rare Disorders, Inc. http://www.rarediseases.org
Health Canada http://www.hc-sc.gc.ca
Service Canada http://www.servicecanada.gc.ca
Homocystinuria. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us. Updated August 28, 2011. Accessed August 13, 2013.
Homocystinuria. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition=homocystinuria. Published August 12, 2013. Accessed August 13, 2013.
Homocystinuria. National Organization for Rare Disorders, Inc. website. Available at: http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/463/viewAbstract. Accessed August 13, 2013.
- Reviewer: Michael Woods, MD
- Review Date: 08/2013 -
- Update Date: 05/11/2013 -
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
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