Table 6.

Biotinidase Deficiency: Treatment of Manifestations in Symptomatic Individuals

Manifestation/ConcernTreatmentConsiderations/Other
Metabolic decompensation 1
  • Hydration (typically intravenous) for dehydration
  • Bicarbonate for acidosis
Biotin therapy (see Table 5) can rapidly resolve the metabolic derangement & improve many of the clinical symptoms w/in hours to days.
Developmental delay / Intellectual disability Supportive developmental therapies & educational resources
  • Speech therapy, occupational therapy, & physical therapy may be beneficial, depending on specific needs.
  • Consider referral to developmental specialist.
  • Special education, incl IEP or 504 plans, may be considered. 2, 3
Optic atrophy Ophthalmic subspecialist
Low vision services
  • Children: through early intervention programs &/or school district
  • Adults: Low vision clinic &/or community vision services / occupational therapy / mobility services
Hearing loss
  • Hearing aids may be helpful per otolaryngologist.
  • In select instances, cochlear implants may be considered.
Community hearing services through early intervention or school district
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources& support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
Consider involvement in adaptive sports or Special Olympics.

IEP = individualized educational plan

1.

Although newborn screening for biotinidase deficiency has resulted in almost complete ascertainment of children with biotinidase deficiency in the United States and in many other countries, occasionally a child who has not been screened or has been mistakenly thought to have normal biotinidase activity on newborn screening will present with clinical symptoms.

2.

Individualized education plans (IEPs) are specific to the United States. An IEP provides specially designed instruction and related services to children who qualify.

3.

A 504 plan is specific to the United States (Section 504: a US federal statute that prohibits discrimination based on disability). It can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text.

From: Biotinidase Deficiency

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