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Definition

Homocystinuria is a problem with the metabolism. It causes low levels of a specific enzyme. These enzymes normally help to break down the amino acids methionine and homocysteine. This causes the buildup of these amino acids.

Causes

The most common form of homocystinuria is caused by a deficiency of the enzyme cystathionine beta-synthase.

Homocystinuria is a genetic problem. Both parents must have the defective gene in order for the child to develop the condition. A number of genes have been identified such as CBS, MTHFR, MTR, MTRR, and MMADHC.

Risk Factors

Homocystinuria is more common in New South Wales, Australia, and Ireland.

If both parents carry the faulty gene, there is a:

  • 25% chance the child will be born with the condition
  • 50% chance the child will be a carrier of the faulty gene

Symptoms

The number and severity of symptoms vary. Symptoms may include:

  • Visual problems
  • Excessive bleeding
  • Lightheadedness
  • Flush across the cheeks, fair complexion
  • Seizures
  • Tall, thin build
  • Delays in growth
  • Long limbs
  • High-arched feet
  • Knock-knees
  • Abnormal formation of the rib cage
  • Protrusion of the chest over the sternum
  • Developmental delays
  • Learning problems
  • Intellectual disability

Blood Clots in the Heart

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Homocystinuria may have serious complications, such as the development of blood clots. This could lead to a stroke, heart attack, or severe high blood pressure.

Diagnosis

Early treatment is important. Many states require that newborns be screened for homocystinuria. The test usually looks for high levels of methionine. If the test is positive, blood or urine tests can be done to confirm the diagnosis. These tests can detect high levels of methionine, homocysteine, and other sulfur-containing amino acids. Tests to detect an enzyme deficiency may be done as well.

Prenatal diagnosis of homocystinuria is available. It is done with samples taken during an amniocentesis or chorionic villi sample.

To look for potential complications, the following tests may also be done:

Treatment

There is no specific cure for homocystinuria. Treatment is focused on managing the levels of methionine. It should begin as early as possible. Treatment may include medication and/or a special diet.

Medication

Many people respond to high doses of vitamin B6. The supplement will be needed for the rest of your life. A normal dose of folic acid supplement is helpful. Other medications may also be occasionally needed.

Special Diet

A special diet may help people who don't respond to or don't respond fully to vitamin B6 treatment. Starting the diet early in life can help prevent intellectual disability and other complications. In general, the diet:

  • Restricts foods with methionine
  • Consists mainly of fruits and vegetables
  • Allows little, if any, meats, eggs, dairy products, breads, and pastas

Prevention

Genetic counseling is advised for people with a family history of homocystinuria. The counselor will help you determine the risk your child has of developing homocystinuria.

RESOURCES:

Genetics Home Reference
http://ghr.nlm.nih.gov

National Organization for Rare Disorders
http://www.rarediseases.org

CANADIAN RESOURCES:

Canadian Organization for Rare Disorders
http://www.raredisorders.ca

Health Canada
https://www.canada.ca

REFERENCES:

Homocystinuria. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition=homocystinuria. Accessed January 28, 2021.

Homocystinuria. National Organization for Rare Disorders, Inc. website. Available at: http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/463/viewAbstract. Accessed January 28, 2021.

Last reviewed March 2020 by EBSCO Medical Review Board Chelsea Skucek, MSN, BS, RNC-NIC  Last Updated: 01/28/2021