About this topic
Protein is part of the food you eat. It is made of smaller building blocks called amino acids. Enzymes are needed to change the amino acids so your body can use them. Homocystinuria is a disease where you cannot change one of the amino acids in the food you eat. With this condition, the enzyme is missing or not working the right way. Then, the amino acids build up in your blood and cause problems. Homocysteine is the amino acid that builds up in your blood. ‚
What are the causes?
This is a disease that is passed on from your parents. Most of the time, both parents must have the defective gene for you to be born with it. ‚
What are the main signs?
Most often, babies look normal and healthy after they are born. If the condition is not treated, the child starts to have problems. ‚
- Blood clots are the most serious problem and may lead to heart problems, stroke, or death
- Poor growth and problems gaining weight
- Delays in crawling, walking, and talking
- Eye problem such as nearsightedness
- Serious learning disabilities and behavior problems
- Problems with seeing that may lead to blindness
- Weak or brittle bones
- Long limbs or spider fingers
- Tall, thin build
- Pale hair and skin
- Seizures
How does the doctor diagnose this health problem?
Your doctor will take your history and do an exam. You may have to talk with other experts as well. The doctor may order: ‚
- Blood tests
- Tissue sample of the skin and liver
- X-rays
- Eye exam
How does the doctor treat this health problem?
There is no cure for this disease. It is important to learn of this disease early in life and start treatment right away. This is because some problems, such as learning disabilities, will not get better with treatment. But starting treatment early can stop some problems from getting worse. ‚
Some patients are treated with vitamins. Others may need a special diet. Some may need both. You will work with a dietitian to learn about the best foods for you to eat. ‚
Are there other health problems to treat?
- Some people have long-term problems because of blood clots or eye problems.
- The doctor may also send you to a therapist for more help if you have slowed development.
What lifestyle changes are needed?
You will have to follow your special diet for the rest of your life. This will help to keep your condition from getting worse. ‚
What drugs may be needed?
The doctor may order drugs to: ‚
- Lower homocystine levels in the blood
- Give missing enzymes
- Give vitamins and minerals, such as B6 or folic acid
What problems could happen?
- Blood clots
- Weakening of bones
- Learning disability
- Problems seeing
What can be done to prevent this health problem?
Since this is a disease you pass down to your children, you may want to do genetic testing before having a baby. Then, treatment may be started right after a baby is born. This will help to lower any problems from the illness. ‚
Where can I learn more?
Genetic and Rare Disease Information Center ‚
http://rarediseases.info.nih.gov/GARD/Condition/10770/Homocystinuria.aspx ‚
Screening Technology and Research in Genetics ‚
http://www.newbornscreening.info/Parents/aminoaciddisorders122110/Homocyst_update_2010.pdf ‚
Washington State Department of Health ‚
http://www.doh.wa.gov/Portals/1/Documents/5220/5220-HCYS-GO.pdf ‚
Consumer Information Use and Disclaimer
This information is not specific medical advice and does not replace information you receive from your health care provider. This is only a brief summary of general information. It does NOT include all information about conditions, illnesses, injuries, tests, procedures, treatments, therapies, discharge instructions or life-style choices that may apply to you. You must talk with your health care provider for complete information about your health and treatment options. This information should not be used to decide whether or not to accept your health care providers advice, instructions or recommendations. Only your health care provider has the knowledge and training to provide advice that is right for you. ‚
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Copyright ‚ © 2015 Clinical Drug Information, LLC and Lexi-Comp, Inc. ‚