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Catalog
PPM –Evaluation and Ongoing Care of Biotinidase De ...
Biotinidase Deficiency Checklist
Biotinidase Deficiency Checklist
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Pdf Summary
This document provides a checklist for the evaluation and ongoing care of individuals with Biotinidase Deficiency. It suggests several key points that should be addressed and recorded during patient visits:<br /><br />1. Prenatal and birth history<br />2. Three-generation family history<br />3. Documentation of newborn screening result and biotinidase activity<br />4. If symptomatic, obtain additional tests including glucose, electrolytes, blood gas, lactate, ammonia, and organic acids.<br />5. Follow-up testing that includes biotinidase enzyme activity, plasma acylcarnitines, and urine C5-OH acylcarnitine.<br />6. Documentation of the type of biotinidase deficiency (partial or profound).<br />7. Treatment with biotin, noting the dosage.<br />8. Annual monitoring of vision and hearing.<br />9. Monitoring of skin and hair during physical examination.<br />10. Developmental history evaluation.<br />11. Genetic counseling for recurrence risk.<br />12. Recommendation for parental genetic testing.<br />13. Counseling on the need for lifelong biotin therapy.<br />14. Counseling to avoid foods prepared with raw or undercooked egg whites.<br />15. Providing support group information.<br /><br />By addressing these points, healthcare providers can ensure comprehensive care for individuals with Biotinidase Deficiency and support their long-term health and well-being.
Keywords
Biotinidase Deficiency
checklist
evaluation
ongoing care
family history
newborn screening
biotinidase activity
follow-up testing
biotin treatment
genetic counseling
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