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Homocystinuria / Amino Acid Metabolism Disorder

Homocystinuria | Amino Acid Metabolism Disorder - Frequently Asked Questions

Q: Which doctor should I consult to rule out homocystinuria in my child?

A: You should consult a child specialist or pediatrician.

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Q: What is the role of homocysteine in the body?

A: Homocysteine is normally converted to other amino acids for use by the body. Many people with a high homocysteine level have folate (also called folic acid), vitamin B6, or vitamin B12 deficiency in their diet. Replacing these vitamins often helps restore the homocysteine levels to normal.

Q: What are the risk factors of homocystinuria?

A: One of the risk factors is if someone in the family has homocystinuria because the condition can be inherited. Other possible risk factors include being a native of Germany, Norway, Ireland or Qatar where the condition is common.

Q: What are the complications of homocystinuria?

A: Complications of high homocysteine levels include an increased risk of blood clots leading to heart attacks and stroke. Other complications include early osteoporosis or brittle bones by age 15 years, fatty liver and damage to pancreas (pancreatitis).

Q: What is the prognosis of homocystinuria?

A: Early diagnosis and initiation of treatment is key to preventing complications and possibly reverse some of the initial symptoms. Follow the modified diet lifelong and having periodic evaluations by specialists can help prevent complications.


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