Biotinidase deficiency

Biotinidase deficiency is treated by lifelong supplementation with oral biotin daily. Symptomatic individuals with profound biotinidase deficiency are expected to improve with the initiation of biotin therapy, and asymptomatic individuals who are diagnosed by newborn screening or through other methods prior to onset of symptoms and have appropriate ongoing treatment can be expected to avoid developing symptoms.

Oral biotin for the treatment of biotinidase deficiency is generally dosed at 5-10 mg per day. Oral biotin may also be referred to as vitamin H, coenzyme R, or part of vitamin B complex, and is available over the counter as a dietary supplement. However, for the treatment of biotinidase deficiency, it is important that the biotin is in the form of free biotin, as opposed to bound biotin. The biotin contained in oral multivitamin supplements is generally in the form of bound biotin, and is not effective or appropriate for treatment of biotinidase deficiency. Biotin is available in the free form in over the counter supplements. It is important that if you are giving biotin to your child for the purpose of treating biotinidase deficiency that you ensure that the biotin that you are giving is in the free (unbound) form. Your doctor or pharmacist may be able to assist you with any questions about this issue.

In addition to ongoing, lifelong treatment with oral free biotin supplements, individuals with symptoms related to biotinidase deficiency may benefit from symptomatic management with appropriate specialists.

Individuals with treated biotinidase deficiency should have yearly vision and hearing evaluations and regular physical examination by a doctor or metabolic specialist familiar with biotinidase deficiency. Individuals with biotinidase deficiency should be monitored by their physician for symptoms of biotinidase deficiency such as vision or hearing problems, skin problems, and developmental problems, as early intervention for any potential symptoms may improve outcome.

The best way to obtain the most accurate, current, clear, and comprehensive information about treatment and management of biotinidase deficiency is to be seen by a geneticist or metabolic specialist. Geneticists/metabolic specialists and genetic counselors work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. They will work with your current doctors to organize the treatment, tests, and specialists you need.

To assist in locating genetic services in your area, the National Society of Genetic Counselors website includes a searchable "Find A Genetic Counselor" directory which may be used to locate genetic counselors throughout the United States and Canada. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Individuals with symptoms related to biotinidase deficiency may benefit from symptomatic management with appropriate specialists. Specifically, individuals with treated biotinidase deficiency should have yearly vision and hearing evaluations and regular physical examination by a doctor or metabolic specialist familiar with biotinidase deficiency. Individuals with biotinidase deficiency should be monitored by their physician for symptoms of biotinidase deficiency such as vision or hearing problems, skin problems, and developmental problems, as early interventions with any potential symptoms may improve outcome.

The best way to obtain the most accurate, current, clear, and comprehensive information about treatment and management of biotinidase deficiency is to be seen by a geneticist or metabolic specialist. Geneticists/metabolic specialists and genetic counselors work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. They will work with your current doctors to organize the treatment, tests, and specialists you need.

To assist in locating genetic services in your area, the National Society of Genetic Counselors website includes a searchable "Find A Genetic Counselor" directory which may be used to locate genetic counselors throughout the United States and Canada. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state. A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.