Biotin (commercial drug) is a medication commonly prescribed to pediatric patients to help manage certain metabolic disorders. In this clinical trial, the commercial version of biotin is being used to assess its tolerability in children with rare diseases. The goal is to see how well children can handle this form of the medication as part of their usual treatment.

Biotin (master formula, chewable formulation) is a specially prepared version of biotin created by the Pharmacy Service at the Hospital Clínico Universitario de Santiago de Compostela. This chewable form is designed to be easier for children to take, with the aim of improving their adherence to the treatment. The trial is comparing this formulation to the commercial version to determine which is better tolerated by pediatric patients.

3-Methylcrotonyl-CoA Carboxylase Deficiency – This is a rare metabolic disorder where the body cannot properly process certain proteins and fats due to a deficiency in a specific enzyme. It can lead to the accumulation of harmful substances in the body. Symptoms may include feeding difficulties, vomiting, lethargy, and developmental delays. The condition is usually identified in infancy or early childhood. It is a genetic disorder, meaning it is inherited from one’s parents. Management often involves dietary adjustments to limit the intake of certain proteins.

Biotinidase Deficiency – This is a rare genetic disorder where the body is unable to recycle the vitamin biotin effectively. Biotin is essential for the metabolism of fats, carbohydrates, and proteins. Symptoms can include skin rashes, hair loss, seizures, and developmental delays. The condition is usually detected in infancy through newborn screening. It is caused by mutations in the BTD gene, which affects the enzyme responsible for biotin recycling. Early detection and management are crucial to prevent complications.