Biotinidase deficiency is an inherited metabolic disorder in which the body cannot process the vitamin biotin due to a deficiency in the enzyme biotinidase. Children affected with biotinidase deficiency can experience seizures, poor muscle tone, difficulty with movement and balance, developmental delay, vision problems, hearing loss, and skin. Biotinidase deficiency is an inherited (genetic) condition that prevents the body from processing proteins, fats, and carbohydrates correctly. Many different enzymes break down proteins, fats, and carbohydrates in your body. Some of these enzymes need a vitamin called biotin to work properly.
Dec 29, · Biotinidase deficiency (BTD) is the most common cause of biotin deficiency. BTD is a rare inherited disorder where the body is not able to use biotin and leads to Author: Amanda Barrell. Jul 27, · Biotinidase deficiency or absence impairs biotin production, leading to a free biotin deficiency and resulting in decreased metabolic activity of the biotin-dependent carboxylases. Biotin-dependent carboxylases have essential roles in the intracellular processes by which nutritive material is converted into cellular components, a process.
Profound Biotinidase Deficiency in Two Asymptomatic Adults - PubMed Biotinidase deficiency is an autosomal-recessive disorder of biotin recycling. Children with profound biotinidase deficiency usually have neurological and cutaneous symptoms in early childhood, but they may not Cited by: A. Biotinidase deficiency is a treatable disorder that affects the way the body recycles biotin, one of the B12 vitamins. Because this system doesn’t work properly, the body has very low levels of biotin. This vitamin is necessary for many functions in the body. If left untreated, biotinidase deficiency can cause brain damage and.