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==Overview== | ==Overview== | ||
Homocystinuria, also known as cystathionine beta synthase deficiency, is an inherited disorder of the [[metabolism]] of the [[amino acid]][[methionine]], often involving [[cystathionine beta synthase]]. It is an inherited [[autosomal recessive trait]], which means a child needs to inherit the defective gene from both parents to be affected. | Homocystinuria, also known as cystathionine beta synthase deficiency, is an inherited disorder of the [[metabolism]] of the [[amino acid]] [[methionine]], often involving [[cystathionine beta synthase]]. It is an inherited [[autosomal recessive trait]], which means a child needs to inherit the defective gene from both parents to be affected. | ||
==References== | ==References== | ||
Revision as of 13:41, 16 April 2015
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Homocystinuria Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Homocystinuria overview On the Web |
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American Roentgen Ray Society Images of Homocystinuria overview |
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Risk calculators and risk factors for Homocystinuria overview |
For patient information, click here.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Overview
Homocystinuria, also known as cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected.