āProvider action sheet for biotinidase deficiency (BD)ā
āPrintable PDF of this Action Sheetā
āIf the California Newborn Screening (NBS) Program has identified an infant in your care who has a screen-positive result for biotinidase deficiency (BD):
What steps do I need to take?
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Consult with a California Childrenās Services Special Care Center (SCC) specialist. They will ask for your assessment of the infantās current health status and if the infant has any signs of the disorder. The SCC specialist or the NBS Program Area Service Center (ASC) staff will order confirmatory tests. Further evaluation may be required to make a final diagnosis. Once a definitive diagnosis is made, the goal of treatment is to manage the disease.
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Contact the family to explain the positive newborn screening test result. For information on how best to communicate, consult the
Health Resources & Services Administration Newborn Communication Guideā (or search online for āhrsaā āheritableā ācommunicationā)
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Remind the family that their infant was positive on a screen, and it is not diagnostic. Emphasize that you, with ASC staff and the SCC specialist, will guide them through the next steps of confirmatory testing and follow-up services.
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Review the accompanying, āFamily action sheet for biotinidase deficiency (BD)ā with the family and ensure they understand.
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Advise parents to (1) follow the plan for confirmatory testing right away, (2) keep their infantās appointments with the SCC specialist, if needed, and (3) start treatment if indicated. Infants with BD must take a special biotin supplement every day. The family should receive services from a multidisciplinary team of specialists, including genetic counseling services.
Clinical information
BD is an autosomal recessive metabolic disorder in which the biotinidase enzyme is absent or deficient. Without effective therapy, symptoms may include seizures, hypotonia, skin rash, alopecia, developmental delay, visual and hearing issues, ketolactic acidosis, and organic acidemias.
With early identification and proper treatment, BD can be managed successfully.
There may be a profound deficiency or partial deficiency.
Please visit these sites. Search for the site name and ābiotinidase deficiencyā if needed.
āQuestions?
For follow-up questions, please call your NBS Program Area Service Center.
For program questions, please email NBS Program staff at
NBS@cdph.ca.govā or visit the
NBS Program website.
California Department of Public Health
Ā© Genetic Disease Screening Program, 8/2023āāāāā