Use

Biotinidase Enzyme Analysis provides enzymatic analysis of biotinidase, essential for diagnosing biotinidase deficiency linked to pathogenic variants in the BTD gene. This deficiency occurs due to reduced or absent biotinidase activity and can lead to serious conditions such as seizures, hypotonia, ataxia, developmental delays, hearing loss, and skin problems including alopecia and frequent rashes. Immediate biotin supplementation is crucial upon symptom onset to mitigate these issues. It is not suitable for carrier screening as carriers usually exhibit normal biotinidase activity, but indications for testing include patients with a suspected diagnosis and positive newborn screening.