Is Biotinidase Deficiency hereditary?

Biotinidase Deficiency: Is it Hereditary?

Biotinidase deficiency is a rare inherited disorder that affects the body's ability to process biotin, a B-vitamin essential for various metabolic processes. This condition is caused by mutations in the BTD gene, which provides instructions for producing the biotinidase enzyme. Without sufficient biotinidase activity, the body cannot effectively recycle and utilize biotin from food sources or produce it on its own.

Inheritance Pattern:

Biotinidase deficiency follows an autosomal recessive inheritance pattern. This means that an affected individual must inherit two copies of the mutated BTD gene, one from each parent, to develop the condition. If both parents are carriers of the mutated gene but do not have the disorder themselves, each of their children has a:

• 25% chance of being affected by biotinidase deficiency


• 50% chance of being a carrier like their parents


• 25% chance of neither having the disorder nor being a carrier

Carrier Status:

Carriers of biotinidase deficiency have one normal copy of the BTD gene and one mutated copy. They typically do not experience any symptoms or health problems related to the condition. However, if two carriers have a child together, there is a chance that the child may inherit two mutated copies and develop biotinidase deficiency.

Screening and Diagnosis:

Biotinidase deficiency can be detected through newborn screening programs, which involve a simple blood test shortly after birth. This screening helps identify affected infants early, allowing for prompt treatment and prevention of potential complications. If the initial screening indicates low biotinidase activity, further diagnostic tests, such as genetic testing, may be conducted to confirm the diagnosis.

Treatment and Management:

Fortunately, biotinidase deficiency can be effectively managed with biotin supplementation. Daily oral doses of biotin, a synthetic form of the vitamin, can compensate for the enzyme deficiency and prevent symptoms from occurring. Early diagnosis and lifelong treatment are crucial to prevent complications associated with untreated biotinidase deficiency, such as neurological problems, skin rashes, hair loss, and developmental delays.

Conclusion:

Biotinidase deficiency is a hereditary condition that follows an autosomal recessive inheritance pattern. It is caused by mutations in the BTD gene and affects the body's ability to process biotin. Carriers of the mutated gene do not typically experience any symptoms, but if two carriers have a child together, there is a chance the child may develop the disorder. Newborn screening programs play a vital role in early detection and prompt treatment of biotinidase deficiency, ensuring affected individuals receive the necessary biotin supplementation for optimal health and development.