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NCC Knowledge Nugget Series: Biotinidase Deficienc ...
Biotinidase Deficiency ACT Sheet
Biotinidase Deficiency ACT Sheet
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Pdf Summary
The ACT Sheet provides information on biotinidase deficiency, a condition caused by decreased levels of the enzyme biotinidase. It disrupts the activity of biotin-requiring enzymes and leads to decreased biotin levels. The condition is usually asymptomatic, but can cause symptoms such as poor feeding, lethargy, and hypotonia. Prompt action is recommended, including informing the family of the screening result, consulting with a pediatric metabolic specialist, and initiating confirmatory testing and management based on the specialist's recommendations. Diagnostic evaluation involves measuring biotinidase activity in the serum and may require molecular genetic testing. Prognosis is good with biotin treatment. Untreated cases can lead to developmental delay, seizures, alopecia, and hearing deficits. The document also includes additional resources for communicating newborn screening results, gene reviews, and information for families. Local, state, regional, and national referral resources are provided, including a genetics clinic directory and a genetic testing registry. The document emphasizes that adherence to this practice resource is voluntary and that clinicians should use their own judgment in determining the appropriateness of procedures and tests for individual patients. It also advises considering other medical and scientific information as well as intellectual property interests that may restrict certain tests and procedures. This information is provided by the American College of Medical Genetics and Genomics.
Keywords
biotinidase deficiency
enzyme biotinidase
biotin-requiring enzymes
poor feeding
lethargy
hypotonia
pediatric metabolic specialist
confirmatory testing
molecular genetic testing
biotin treatment
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