Holocarboxylase synthetase deficiency is a rare inherited metabolic disorder that affects the body's ability to use or process certain vitamins, specifically biotin. This condition is caused by mutations in the gene responsible for producing an enzyme called holocarboxylase synthetase.
Holocarboxylase synthetase is a vital enzyme that is required for the activation of biotin, a vitamin essential for various important metabolic processes in the body. In individuals with holocarboxylase synthetase deficiency, this enzyme is either absent or non-functional, leading to impaired biotin utilization.
As a result, affected individuals are unable to break down and utilize biotin, leading to a deficiency of this crucial vitamin. Biotin is essential for the metabolism of fatty acids, amino acids, and carbohydrates, and its deficiency causes a disruption in these processes.
Symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life and can vary in severity. Common symptoms include poor appetite, growth retardation, lethargy, recurrent infections, hypotonia (low muscle tone), developmental delays, skin rashes, hair loss, and neurological abnormalities.
Early diagnosis and treatment are crucial to prevent or minimize the progression of symptoms. Treatment involves lifelong biotin supplementation in high doses to compensate for the enzyme deficiency. With early diagnosis and appropriate management, individuals with holocarboxylase synthetase deficiency can have improved health and a better quality of life.
