Biotinidase deficiency is a rare genetic disorder that affects the body's ability to process biotin, a B vitamin that is essential for growth and overall health. Biotin is necessary for the metabolism of fats, carbohydrates and amino acids, and it plays a crucial role in the health of skin, hair and nails.
Individuals with biotinidase deficiency have a deficiency in the biotinidase enzyme, which is responsible for recycling biotin and making it available for use by the body. Without this enzyme, biotin is not properly metabolized and can accumulate to toxic levels in the body.
Symptoms of biotinidase deficiency can include skin rash, hair loss, poor growth, neurological problems and developmental delays. Severe cases can lead to seizures, coma and even death if left untreated.
Diagnosis of biotinidase deficiency is made through a simple blood test, and treatment typically involves taking high doses of biotin supplements. With early diagnosis and treatment, most individuals with biotinidase deficiency can lead normal lives.
It is also important to note that biotin deficiency can also be caused by other factors, such as malabsorption disorders, long-term use of antibiotics, and an overconsumption of raw egg whites.
NutraHacker examines the following gene related to Biotinidase Deficiency:
For more information about your own genetic profile as related to Biotinidase Deficiency, please check out our NutraHacker Critical Genetics Basic Report Description.
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