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.
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.
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
The number and severity of symptoms vary. Symptoms may include:
- Visual problems
- Excessive bleeding
- Flush across the cheeks, fair complexion
- Tall, thin build
- Delays in growth
- Long limbs
- High-arched feet
- Abnormal formation of the rib cage
- Protrusion of the chest over the sternum
- Developmental delays
- Learning problems
- Intellectual disability
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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:
- An eye exam
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.
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.
- Homocystinuria. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition=homocystinuria.
- Homocystinuria. National Organization for Rare Disorders, Inc. website. Available at: http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/463/viewAbstract.
- Chelsea Skucek, MSN, BS, RNC-NIC
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