Question: How many people are affected by biotinidase deficiency ?
Answer: Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns
Source: GHR

Question: What are the genetic changes related to biotinidase deficiency ?
Answer: Mutations in the BTD gene cause biotinidase deficiency. The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free (unbound) state. Free biotin is needed by enzymes called biotin-dependent carboxylases to break down fats, proteins, and carbohydrates. Because several of these enzymes are impaired in biotinidase deficiency, the condition is considered a form of multiple carboxylase deficiency. Mutations in the BTD gene reduce or eliminate the activity of biotinidase. Profound biotinidase deficiency results when the activity of biotinidase is reduced to less than 10 percent of normal. Partial biotinidase deficiency occurs when biotinidase activity is reduced to between 10 percent and 30 percent of normal. Without enough of this enzyme, biotin cannot be recycled. The resulting shortage of free biotin impairs the activity of biotin-dependent carboxylases, leading to a buildup of potentially toxic compounds in the body. If the condition is not treated promptly, this buildup damages various cells and tissues, causing the signs and symptoms described above.
Source: GHR

Question: Is biotinidase deficiency inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the BTD gene in each cell have mutations. The parents of an individual with biotinidase deficiency each carry one copy of the mutated gene, but they typically do not have any health problems associated with the condition.
Source: GHR

Question: What are the treatments for biotinidase deficiency ?
Answer: These resources address the diagnosis or management of biotinidase deficiency: - Baby's First Test - Gene Review: Gene Review: Biotinidase Deficiency - Genetic Testing Registry: Biotinidase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR