Homocystinuria (Cystathionine beta synthase deficiency)

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Homocystinuria

Alternate Names : Cystathionine beta synthase deficiency

Definition

Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine.

Overview, Causes, & Risk Factors

Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit the non-working gene from both parents to be seriously affected.

Homocystinuria has several features in common with Marfan syndrome. Unlike Marfan syndrome, in which the joints tend to be "loose," in homocystinuria the joints tend to be "tight."

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Pectus excavatum

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Homocystinuria : Definition
Homocystinuria : Overview, Causes, & Risk Factors
Homocystinuria : Symptoms & Signs
Homocystinuria : Diagnosis & Tests
Homocystinuria : Treatment
Homocystinuria : Prognosis (Expectations)
Homocystinuria : Complications
Homocystinuria : Calling Your Health Care Provider
Homocystinuria : Prevention
Homocystinuria : References
Homocystinuria : Pictures & Images
Pectus excavatum

Review Date : 1/21/2010
Reviewed By : Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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