Homocystinuria
Alternate Names : Cystathionine Beta Synthase Deficiency
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Homocystinuria Treatment
There is no specific cure for homocystinuria. However, many people respond to high doses of vitamin B6 (also known as pyridoxine). Slightly less than 50% respond to this treatment; those that do respond need supplemental vitamin B6 for the rest of their lives. Those that do not respond require a low methionine diet, and most will need treatment with trimethylglycine (a medication).
A normal dose folic acid supplement and occasionally added cysteine (an amino acid) in the diet is helpful.
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