277.6, Deficiency of circulating enzymes
Initial signs/symptoms may include:
- hyperventilation, laryngeal stridor, and/or apnea
- eczematoid rash
Older children may manifest:
- limb weakness
- developmental delay
- neurosensory hearing loss
- optic atrophy and scotomata
- recurrent viral and fungal infections
Children with untreated partial biotinidase deficiency may manifest any of the above symptoms, though generally they will be mild and occur only with concomitant stressors, such as prolonged infection.
- Contact the family and evaluate the infant for poor feeding, lethargy, or hypotonia.
- Provide emergency treatment/referral if symptoms are present (see the ACT Sheet for Biotinidase deficiency).
- To confirm the diagnosis, work with the following service(s): see all Newborn Screening Programs services providers (3) in our database.
- For evaluation and ongoing collaborative management, consult the following service(s): Medical Genetics, (801-231-3599); See also Services below.
- Educate the family regarding signs, symptoms, and the need for urgent care when the infant becomes ill (see Biotinidase deficiency tutorial for parents, English & Spanish for additional information).
- Start oral biotin at 5mg bid and assure continuation for life in patients with profound biotinidase deficiency. Patients with partial deficiency might require lower doses after the first year of life.
- For those identified after irreversible consequences, assist in management, particularly with low vision aids, hearing aids or cochlear implants, developmental and educational interventions.
Revealing Biotinidase (UDOH)( 226 KB)
Five pages of detail on biotinidase deficiency, including screening, pathophysiology, management, and Quick Facts; from the Utah Newborn Screening Program, Utah Department of Health
ACT Sheet for Elevated C5-OH Acylcarnitine (ACMG)( 400 KB)
Developed by the American College of Medical Genetics, includes recommended responses to positive newborn screening test results, diagnostic evaluation, clinical expectations, and sources of additional information.
Newborn Screening ACT Sheets & Confirmatory Algorithms (ACMG)
ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results, membership required; American College of Medical Genetics.
Biotinidase deficiency (GeneReviews)
Detailed review by Barry Wolf, MD, PhD, including clinical description, natural history, management, and genetics.
Resources for Biotinidase deficiency (NLM)
Comprehensive compilation of links to information, articles, research, case studies, genetics, and more; from the National Library of Medicine and the Genetic Alliance.
Genetics in Primary Care Institute (GPCI)
Increases collaboration in the care of children with known or suspected genetic disorders. Includes health supervision and management guidelines, and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal & Child Health Bureau, and the American Academy of Pediatrics.
Biotinidase deficiency (Genetics Home Reference)
Excellent, detailed review aimed at patients and families; from the National Library of Medicine's Genetics Home Reference site.
Biotinidase deficiency tutorial for parents, English & Spanish
From the Iowa Department of Health's Center for Congenital and Inherited Disorders web site, click the link for "Patient Education Learning Modules" for several tutorials on congenital conditions from the Patient Education Institute. Please let us know if this link disappears or no longer works.
Biotinidase Deficiency Family Support Group
Support group site with information, links, and a "Family Center" with an email forum, chance to meet other families, and read stories.
See all Newborn Screening Programs services providers (3) in our database.
See all Pediatric Genetics services providers (3) in our database.
For other services related to this condition, browse our Services categories or search our database.
Clinical issues and frequent questions about biotinidase deficiency.
Mol Genet Metab. 2010;100(1):6-13. PubMed abstract