Table 4. [Biotinidase Deficiency: Recommended Evaluations Following...]. - GeneReviews®

System/Concern	Evaluation	Comment
Genetics / Genetic counseling	Consultation w/metabolic physician / biochemical geneticist & specialist metabolic dietitian
Genetic counseling by genetics professionals ¹	To inform affected persons& their families re nature, MOI, & implications of biotinidase deficiency to facilitate medical & personal decision making
Constitutional	Measurement of growth parameters	To screen for poor growth
Gastrointestinal/ Feeding	Nutrition / feeding team eval	To incl eval of aspiration risk & nutritional status Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
Neurologic	Neurologic eval	To incl assessment for hypotonia, ataxia, & seizures Consider EEG if seizures are a concern.
Eyes	Ophthalmologic eval	To assess for optic atrophy, scotoma, conjunctivitis, etc.
Integument	Full skin & mucosal exam	To assess for eczematous rash, alopecia, thrush, &/or candidiasis
Respiratory	Clinical assessment for breathing issues incl stridor, hyperventilation, & apnea
Development	Developmental assessment	To incl motor & feeding-speech eval Eval for early intervention service needs
Hearing	Audiologic eval	Assess for hearing loss.
Immunologic	Assess for history of recurrent viral or fungal infections.	Untreated affected persons are at ↑ risk of immune dysfunction; however, this typically resolves w/biotin therapy, so no formal immunologic studies are typically required.
Family support & resources	By clinicians, wider care team, & family support organizations	Assessment of family & social structure to determine need for: Community or online resources such as Parent to Parent Social work involvement for parental support

System/Concern

Evaluation

Comment

Genetics / Genetic counseling

Consultation w/metabolic physician / biochemical geneticist & specialist metabolic dietitian

Genetic counseling by genetics professionals ¹

To inform affected persons& their families re nature, MOI, & implications of biotinidase deficiency to facilitate medical & personal decision making

Constitutional

Measurement of growth parameters

To screen for poor growth

Gastrointestinal/
Feeding

Nutrition / feeding team eval

To incl eval of aspiration risk & nutritional status
Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.

Neurologic

Neurologic eval

To incl assessment for hypotonia, ataxia, & seizures
Consider EEG if seizures are a concern.

Eyes

Ophthalmologic eval

To assess for optic atrophy, scotoma, conjunctivitis, etc.

Integument

Full skin & mucosal exam

To assess for eczematous rash, alopecia, thrush, &/or candidiasis

Respiratory

Clinical assessment for breathing issues incl stridor, hyperventilation, & apnea

Development

Developmental assessment

To incl motor & feeding-speech eval
Eval for early intervention service needs

Hearing

Audiologic eval

Assess for hearing loss.

Immunologic

Assess for history of recurrent viral or fungal infections.

Untreated affected persons are at ↑ risk of immune dysfunction; however, this typically resolves w/biotin therapy, so no formal immunologic studies are typically required.

Family support
& resources

By clinicians, wider care team, & family support organizations

Assessment of family & social structure to determine need for:

Community or online resources such as Parent to Parent
Social work involvement for parental support

From: Biotinidase Deficiency

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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