Biotinidase deficiency Save

Biotinidase Deficiency: Causes, Symptoms and Diagnosis

Biotinidase deficiency is a rare genetic disorder that affects the body's ability to process biotin, a B vitamin that helps the body convert food into energy. People with this condition have low levels of biotin in their blood, which can lead to a range of symptoms.

1. Causes: Biotinidase deficiency is caused by mutations in the BTD gene, which provides instructions for making the biotinidase enzyme. Without enough of this enzyme, the body can't use biotin properly, leading to a deficiency.
2. Symptoms: The symptoms of biotinidase deficiency can vary widely from person to person and can range from mild to severe. Some common symptoms include:
• Hair loss
• Skin rash
• Seizures
• Developmental delays
• Hearing and vision loss
• Weak muscle tone
• Recurrent infections
3. Diagnosis: Biotinidase deficiency can be diagnosed through a blood test that measures the level of biotinidase in the blood. Genetic testing can also be used to confirm a diagnosis by identifying mutations in the BTD gene.

Biotinidase deficiency is a serious condition that requires treatment to prevent long-term complications. If you or your child is experiencing symptoms of biotinidase deficiency, it's important to see a doctor for diagnosis and treatment.