Table 3.

Biotinidase Deficiency: Recommended Evaluations Following Initial Diagnosis Detected by Newborn Screening in an Asymptomatic Infant

System/ConcernEvaluationComment
Genetics / Genetic counseling Consultation w/metabolic physician / biochemical geneticist & specialist metabolic dietitian
Genetic counseling by genetics professionals 1To inform affected persons& their families re nature, MOI, & implications of biotinidase deficiency to facilitate medical & personal decision making
Constitutional Measurement of growth parametersTo screen for poor growth
Neurologic Neurologic eval
  • To incl assessment for hypotonia & seizures
  • Consider EEG if seizures are a concern.
Hearing Audiologic evalAssess for hearing loss by audiography. 2
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:
1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

2.

Newborn hearing screening should not be used as a substitute for this hearing evaluation.

From: Biotinidase Deficiency

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