Cystathionine beta Synthase Deficiency Disease, also known as CBS deficiency, is a rare inherited metabolic disorder that affects the body's ability to process an amino acid called methionine. This condition is caused by mutations in the cystathionine beta synthase gene, which results in a deficiency of the enzyme cystathionine beta synthase.
Cystathionine beta synthase is essential for the breakdown of methionine and the conversion of another amino acid called homocysteine to cystathionine. In individuals with CBS deficiency, the enzyme's activity is impaired, leading to the accumulation of homocysteine and methionine in the body.
The clinical manifestations of CBS deficiency can vary widely, ranging from mild to severe. Symptoms may present during infancy or childhood and can include developmental delays, intellectual disability, seizures, visual problems, skeletal abnormalities, blood clotting disorders, psychiatric problems, and cardiovascular abnormalities.
The diagnosis of CBS deficiency is made through genetic testing to identify mutations in the cystathionine beta synthase gene. Additionally, laboratory tests can reveal elevated levels of methionine and homocysteine in the blood and urine.
Treatment of CBS deficiency typically involves a strict low-methionine diet, which aims to reduce the intake of methionine-containing foods. In some cases, supplements such as vitamin B6, vitamin B12, and folic acid may be prescribed to aid in the metabolism of homocysteine. Early detection and management are essential in preventing or minimizing the long-term complications associated with CBS deficiency.
In summary, CBS deficiency is a rare genetic disorder characterized by a deficiency of the enzyme cystathionine beta synthase, leading to the accumulation of homocysteine and methion
