Biotinidase Deficiency
On this Page
- What is biotinidase deficiency and what causes it?
- What are the symptoms of biotinidase deficiency?
- How is it diagnosed?
- What is the prognosis?
- What is the risk for other family members or future babies?
- What treatments/therapies/medications are recommended or available?
- How will my child and our family be impacted?
- What is the difference between biotin and biotinidase?
- I don't like my child taking medicines, why can't I just serve food that is high in biotin?
- Resources
Answers to questions families often have about caring
for their child with biotinidase deficiency
What is biotinidase deficiency and what causes it?
Biotinidase deficiency is a genetic disorder caused by the lack of an enzyme that processes biotin, an important cofactor
in the processing of fats, carbohydrates, and protein. Newborns are especially sensitive to biotinidase deficiency, and can
have irreversible vision and hearing loss and seizures, although symptoms of biotinidase deficiency may also first occur in
older children.
What are the symptoms of biotinidase deficiency?
Symptoms may develop as early as the first week of life through childhood. Initial symptoms may include seizures, hypotonia,
hyperventilation, laryngeal stridor or apnea, eczema, hair loss, inflammation of the eyes, yeast infections, and ataxia.
How is it diagnosed?
Most children with biotinidase deficiency are diagnosed by newborn screening tests. Quantitative biotinidase levels can also
be tested if there are concerns in older children.
What is the prognosis?
With treatment, prognosis is excellent. In children who aren't treated, prognosis will depend on the severity of the enzyme
deficiency, with children with less than 10% of normal biotin levels having the worst prognosis.
What is the risk for other family members or future babies?
Biotinidase deficiency is an autosomal recessive condition. Most likely, a child born with biotinidase will have no other
known family members with the condition. Future babies with the same mother and father have a 1 in 4 chance of also inheriting
the gene mutation responsible for biotinidase deficiency.
What treatments/therapies/medications are recommended or available?
Treatment is biotin supplementation depending on the level of existing biotinidase activity.
What is the difference between biotin and biotinidase?
Biotin is a vitamin, whereas biotinidase is an enzyme that allows our body to extract biotin from foods. Biotin is important
for reactions necessary to store glucose and fatty acids and to break down branch-chain amino acids. Both the amount of biotin
and the activity of biotinidase can be measured in the blood.
I don't like my child taking medicines, why can't I just serve food that is high in biotin?
All of the biotin available in foods is bound and not available to individuals who can not cleave it from its bound form due
to the deficiency of biotinidase. Although some vegetables may contain some free biotin, it is not enough to provide adequate
supplementation. The biotin in vitamin preparations is not bound (free). [Wolf: 2010]
Resources
Information & Support
Related Portal Content
Biotinidase Deficiency
Assessment and management information for the primary care clinician caring for the child with biotinidase deficiency.
Care Notebook
Medical information in one place with fillable templates to help both families and providers. Choose only the pages needed to keep track of the current health care summary, care team, care plan, health coverage, expenses, scheduling, and legal documents. Available in English and Spanish.
Biotinidase Deficiency
Assessment and management information for the primary care clinician caring for the child with biotinidase deficiency.
Care Notebook
Medical information in one place with fillable templates to help both families and providers. Choose only the pages needed to keep track of the current health care summary, care team, care plan, health coverage, expenses, scheduling, and legal documents. Available in English and Spanish.
Services for Patients & Families Nationwide (NW)
| Service Categories | # of providers* in: | NW | Partner states (5) (show) | | NM | NV | OH | RI | UT | |
|---|---|---|---|---|---|---|---|---|---|---|
| Audiology | 3 | 19 | 8 | 4 | 25 | 28 | ||||
| Biochemical Genetics (Metabolics) | 1 | 1 | 2 | 1 | 3 | 3 | ||||
| Medical Genetics | 1 | 2 | 5 | 1 | 4 | 8 | ||||
| Newborn Screening Services | 1 | 3 | 2 | 2 | 2 | 3 | ||||
| Pediatric Ophthalmology | 1 | 6 | 6 | 1 | 8 | 4 | ||||
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
Authors & Reviewers
Initial publication: October 2012; last update/revision: August 2019
Current Authors and Reviewers:
| Author: | Lynne M. Kerr, MD, PhD |
Page Bibliography
Wolf B.
Clinical issues and frequent questions about biotinidase deficiency.
Mol Genet Metab.
2010;100(1):6-13.
PubMed abstract