CYB5B
Cystathionine Beta-Synthase (CBS) deficiency
Description
Cystathionine beta-synthase (CBS) deficiency is an inherited metabolic disorder that affects the production of a substance called homocysteine. Homocysteine is an amino acid that is involved in a variety of essential metabolic processes, including the production of proteins, DNA, and energy. In CBS deficiency, the body is unable to produce enough CBS enzyme, which is necessary for the conversion of homocysteine to cystathionine. This leads to an accumulation of homocysteine in the blood, which can have a number of adverse health effects.
Associated Diseases
CBS deficiency can be associated with a number of health problems, including:
- Homocystinuria: This is the most common symptom of CBS deficiency. It is characterized by high levels of homocysteine in the blood and urine. Homocystinuria can lead to a number of complications, including blood clots, heart disease, stroke, and intellectual disability.
- Mental health issues: CBS deficiency has been linked to an increased risk of mental health problems, such as depression, anxiety, and schizophrenia.
- Neural tube defects: CBS deficiency has been linked to an increased risk of neural tube defects, such as spina bifida and anencephaly.
- Skeletal problems: CBS deficiency can lead to skeletal problems, such as osteoporosis and joint pain.
Did you Know ?
CBS deficiency is a relatively rare condition, affecting approximately 1 in 200,000 people. However, it is more common in certain populations, such as people of Irish descent.
