Biotinidase deficiency

Healthcare/Doctors

How do I find an expert, experienced doctor or team who takes care of individuals with biotinidase deficiency?

Geneticists and metabolic specialists have specialized training and expertise in managing the care of individuals with inherited metabolic conditions, including biotinidase deficiency. 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.

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What specialist doctors should I see if I have biotinidase deficiency?

If I have biotinidase deficiency, what should my doctor know about managing the disease?

What specialist doctors should I see if I have biotinidase deficiency?

Regular contact with a geneticist or metabolic specialist can help an individual with biotinidase deficiency with the ongoing treatment and management of biotinidase deficiency, and also identify any other specialists that should be seen.

In addition to ongoing lifelong treatment with oral free biotin, individuals with 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 for any potential symptoms may improve outcome.

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.

References
If I have biotinidase deficiency, what should my doctor know about managing the disease?

Individuals with biotinidase deficiency require lifelong treatment with oral free biotin supplementation. In addition to ensuring that an affected individual is appropriately treated with free biotin supplementation, the physician caring for an individual with biotinidase deficiency should ensure that he or she 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.

Geneticists and metabolic specialists have specialized training and expertise in managing the care of individuals with inherited metabolic conditions, including biotinidase deficiency. 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.

References

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