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NEB Exam Q: Define Homocystinuria | Biochemistry

Discussion in 'Medical Topics' started by Shazy, May 8, 2014.

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    Homocystinuria is caused by cystathionine synthetase deficiency. Affected individuals manifest with skeletal abnormalities resembling those of Marfan syndrome. In addition, they are also at high risk of developing thromboembolism. About 50% of affected patients respond to high doses of vitamin B6 (pyridoxine). Homocystinuria is the most common inborn error of ......

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    , Jul 22, 2014
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    In cystathionine synthase deficiency subluxation of lens is downward and inward.
    In Marfan syndrome sbluxation of lens is upward and outward. ......

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    , Jul 22, 2014
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