Biotin And Biotinidase Deficiency

The document reviewed the importance of biotin and biotinidase (BTD) in maintaining biotin homeostasis, crucial for preventing deficiency-related health issues such as hair loss, seizures, and dermatitis. It noted that biotin deficiency could result from various factors, including inadequate intake and drug interactions, and was particularly concerning in pregnant women, potentially affecting fetal development. BTD deficiency, often genetic, required lifelong biotin supplementation to prevent severe symptoms and irreversible neurological damage. The incidence of profound BTD deficiency was 1 in 112,271. The document also explored the genetic aspects of BTD, identifying over 110 mutations affecting its activity, and highlighted the need for further research on biotin's role in chromatin structure and genome stability.