Diagnose biotinidase deficiency. This test is appropriate for the confirmation of newborn screening positive biotinidase deficiency results. Neonates may have lower enzyme activity than adults. Neonates with partial deficiencies should have repeat testing to confirm results at three to six months of age. This test does not measure biotin. 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.
Biotinidase Deficiency is a rare disorder but those who have it may experience symptoms as an infant or later in childhood. Some of the symptoms are: loss of hair, speech problems, high levels of acid in blood and urine, seizures, infections, brittle nails, nervous system disorders, delayed development, hearing loss, weak muscle tone, breathing. Biotinidase deficiency (BIOT) is an inherited condition in which the body is unable to reuse and recycle the vitamin biotin. Because the body needs free biotin to break down fats, proteins, and carbohydrates effectively, individuals with BIOT are less able to process important nutrients.
Wolf et al. () reported 2 unrelated asymptomatic adults with biotinidase deficiency who were diagnosed only because their affected children were identified by newborn screening. One patient was a year-old Caucasian man who had never had symptoms of the disorder and showed no physical or neurologic abnormalities. Biotinidase deficiency is a genetic condition that causes your body to not be able to process and reuse a vitamin called biotin. Medical Problems for Babies and Children: Symptoms of this condition in babies and children can include seizures, low muscle tone, breathing problems, and developmental delays.