Medical information you need to know as an independent adult with homocystinuria
Overview of the Condition:
Homocystinuria is a rare condition where the body can no longer break down an important amino acid called homocysteine. Because people can’t break down this chemical, it builds up in the body and can cause serious health problems.
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Medical Problems for Babies and Children:
- Young kids with this condition are at risk for developmental problems including learning problems, seizures and eye problems
- Eye problems can include partial dislocation of the lens, severe nearsightedness, and quivering of the iris
- Babies who do not have good treatment during development tend to have worse disorder-related problems later in life
Medical Problems for Teens and Young Adults:
- Teens and young adults who do not monitor their blood homocysteine levels are at risk for blood clots
- Blood clots can lead to very serious problems like blockages of blood to the heart and lungs
- As patients with homocystinuria grow older, they become at risk for developing serious mental health problems including depression, anxiety and even psychosis in some cases, and seizure disorders
- Some young people may develop scoliosis where their spinal columns begin to curve
- Osteoporosis or low bone density often occurs by age 20 and occurs in half of patients
How to Avoid Medical Problems and Complications:
- In most people, oral doses of vitamin B6 lower blood homocysteine levels
- Special formulas (low-methionine) are used to prevent buildup of homocysteine
- If there is poor or double vision, an ophthalmologist should perform a dilated eye exam to look for eye problems mentioned above.
Pregnancy and Other Medical Events
- Pregnancies should be handled normally but the mother should be monitored by a doctor very closely
- The child will not inherit the condition unless the father carries the gene that is responsible for homocystinuria
What Next?
Now you can fill out the Medical Health Summary, and store it on a USB jump drive, or print and save it. This will help you keep important medical information in one place.
Click here for a printable PDF version of this guide.
Resources:
Genetics Home Reference: http://ghr.nlm.nih.gov/condition=homocystinuria#treatment
Google Health: https://health.google.com/health/ref/Homocystinuria
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