Homocystinuria - Overview
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 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."
- Reviewed last on: 1/21/2010
- 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.
Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.
The information provided herein should not be used during any medical emergency or for the
diagnosis or treatment of any medical condition. A licensed medical professional should be
consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all
medical emergencies. Links to other sites are provided for information only -- they do not
constitute endorsements of those other sites. © 1997-
A.D.A.M., Inc. Any duplication or distribution of the information contained herein is
© 2011 University of Maryland Medical Center (UMMC). All rights reserved.
UMMC is a member of the University of Maryland Medical System,
22 S. Greene Street, Baltimore, MD 21201. TDD: 1-800-735-2258 or 1.866.408.6885