Biotinidase deficiency
A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
What is Biotinidase deficiency?
Biotinidase deficiency is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.
If you think you may have Biotinidase deficiency, speak with a qualified healthcare provider for evaluation and guidance.
Symptoms that may be associated with Biotinidase deficiency
When to seek medical care
Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.