Biotinidase, Serum

Use

Biotinidase deficiency is an autosomal recessive disorder caused by disease-causing variants in the BTD gene. It manifests within the first decade of life with symptoms such as seizures, ataxia, developmental delay, hypotonia, sensorineural hearing loss, vision problems, skin rash, and alopecia. This test is preferred for diagnosing biotinidase deficiency and is also useful for ruling out certain organic acidurias with similar presentations. It is included in newborn screening programs to enable early identification and treatment to prevent clinical features associated with this deficiency.