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A member asked:
Why would someone have normal levels of homocysteine in their blood, but high levels of homocysteine in their urine?
A doctor has provided 1 answer
Homocystinuria is a: Disorder with autosomal recessive inheritance. Both parents pass on a mutation of either the mthfr gene on the short arm of chromosome (chr.) 1 or the cbs gene on the long arm of chr. 21, causing deficiency in the respective enzymes for which they code. A metabolic geneticist, hematologist or cardiologist can help your doctor with diagnosis.Some specific forms of hcu respond to specific treatment.
Answered 5/5/2013
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