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Homocystinuria

Homocystinuria

Homocystinuria is a genetic disorder where your body is not able to process parts of proteins very well. Proteins are found in the foods you eat. The proteins are made of smaller building blocks called amino acids. With this disorder, you are not able to break down some parts of proteins. Then the amino acids build up in your blood and cause problems. Homocysteine is the name of the amino acid that builds up in your blood.

Name

Homocystinuria

About this topic

Homocystinuria is a genetic disorder where your body is not able to process parts of proteins very well. Proteins are found in the foods you eat. The proteins are made of smaller building blocks called amino acids. With this disorder, you are not able to break down some parts of proteins. Then the amino acids build up in your blood and cause problems. Homocysteine is the name of the amino acid that builds up in your blood.

What drugs may be needed?

Lower homocystine levels in the blood,Give missing enzymes,Give vitamins and minerals, such as B6 or folic acid,Help prevent stroke

What problems could happen?

Blood clots,Weakening of bones,Learning disability,Problems seeing,Delay in development

Body systems

Endocrine and Metabolic,Medical Genetics,Neonatal,Pediatric

What are other common names?

Amino Acid Disorder,CBS Deficiency,Cystathionine Beta Synthase Deficiency,HCU,HCY,Homocysteinemia

Consumer Information Use and Disclaimer

This information is not specific medical advice and does not replace information you receive from your health care provider. This is only a brief summary of general information. It does NOT include all information about conditions, illnesses, injuries, tests, procedures, treatments, therapies, discharge instructions or life-style choices that may apply to you. You must talk with your health care provider for complete information about your health and treatment options. This information should not be used to decide whether or not to accept your health care provider’s advice, instructions or recommendations. Only your health care provider has the knowledge and training to provide advice that is right for you.

Copyright

Copyright © 2020 Wolters Kluwer Clinical Drug Information, Inc. and its affiliates and/or licensors. All rights reserved.

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