What is Biotinidase Deficiency

Biotinidase deficiency is a rare genetic disorder that affects the body's ability to process biotin, a B-vitamin essential for various metabolic functions. This condition occurs when the body lacks or has low levels of the biotinidase enzyme, which is responsible for recycling biotin in the body.

Symptoms: If left untreated, biotinidase deficiency can lead to a range of symptoms including skin rashes, hair loss, seizures, developmental delays, weak muscle tone, and respiratory problems.

Diagnosis: Early detection is crucial, as prompt treatment can prevent or minimize the symptoms. Newborn screening tests can identify biotinidase deficiency by measuring enzyme activity or biotin levels in the blood.

Treatment: The primary treatment for biotinidase deficiency involves lifelong biotin supplementation. This synthetic form of biotin helps compensate for the enzyme deficiency and allows the body to carry out its normal metabolic processes.

Prognosis: With early diagnosis and proper treatment, individuals with biotinidase deficiency can lead healthy lives. However, if left untreated, the condition can lead to severe neurological complications.

If you suspect biotinidase deficiency in yourself or your child, it is important to consult a healthcare professional for proper diagnosis and guidance.