Homocystinuria overview: Difference between revisions
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==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. | |||
==Historical Perspective== | |||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | |||
==Differentiating Homocystinuria from Other Diseases== | |||
== | ==Epidemiology and Demographics== | ||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Prevention=== | |||
==References== | |||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category: | [[Category:Endocrinology]] | ||
[[Category:Ophthalmology]] | [[Category:Ophthalmology]] | ||
[[Category:Orthopedics]] | [[Category:Orthopedics]] |
Latest revision as of 12:38, 22 July 2016
Homocystinuria Microchapters |
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Homocystinuria overview On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
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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.