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Homocystinuria - Overview

Alternative Names

Cystathionine beta synthase deficiency

Definition of Homocystinuria:

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

Causes, incidence, and risk factors:

Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit the defective 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 homocysturia the joints tend to be "tight."

Pectus excavatum

Reviewed last on: 5/15/2008
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.

References

Rezvani I. Defects in Metabolism of Amino Acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.

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