Cytochrome b5 deficiency
Cytochrome b5 deficiency
Cytochrome b5 deficiency (pronounced: sy-toe-krome bee-five deficiency) is a rare genetic disorder that affects the body's ability to properly metabolize certain fats and steroids.
Etymology
The term "Cytochrome" is derived from the Greek words "kytos" meaning "cell" and "chroma" meaning "color". The "b5" refers to the specific type of cytochrome protein that is deficient in this condition.
Definition
Cytochrome b5 is a membrane-bound hemoprotein which acts as an electron carrier for several membrane-bound oxygenases. In Cytochrome b5 deficiency, the body lacks enough of this protein to carry out these important functions. This can lead to a variety of health problems, including congenital adrenal hyperplasia, hemolytic anemia, and methemoglobinemia.
Symptoms
Symptoms of Cytochrome b5 deficiency can vary widely, but may include fatigue, jaundice, and an increased risk of blood clots. In severe cases, it can lead to life-threatening complications.
Causes
Cytochrome b5 deficiency is caused by mutations in the CYB5R3 gene. This gene provides instructions for making an enzyme that is essential for the normal function of cytochrome b5.
Diagnosis
Diagnosis of Cytochrome b5 deficiency is typically made through genetic testing, which can identify mutations in the CYB5R3 gene.
Treatment
Treatment for Cytochrome b5 deficiency typically involves managing the symptoms and complications of the condition. This may include medications to manage anemia and blood clotting disorders, as well as hormone replacement therapy for individuals with congenital adrenal hyperplasia.
See also
External links
- Medical encyclopedia article on Cytochrome b5 deficiency
- Wikipedia's article - Cytochrome b5 deficiency
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