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A 43-year-old member asked:

Is homocystinuria a genetic or chromosomal disorder?

1 doctor answer1 doctor weighed in
Dr. Quresh Khairullah
Nephrology and Dialysis 44 years experience
See below: Homocystinuria is a genetic disorder which affects the metabolism of the aminoacid methionine. It is inherited as a autosomal recessive trait trait, ie the child must inherit the non working gene from both the parents to be affected. It presents as failure to thrive, mental retardation, visual problems and bone problems.
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Last updated Jul 1, 2012
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