Medical Care

Therapy for biotinidase deficiency is oral biotin, typically prescribed at a starting dose of 5-10 mg/d. Treatment is with free biotin. Bound biotin contained in oral multivitamin supplements does not treat the body deficiency.

Some patients require higher daily doses of free biotin. If the enzymatic defect is present but a healthy clinical response does not occur with lower doses, a high-dose therapy is considered (up to 40 mg/d).

Treatment with free biotin is lifelong in patients with profound deficiency. Patients with a partial deficiency (10%-25% activity remaining) may not require lifelong treatment. Both patient populations, however, require knowledgeable continuity of care to address ongoing medical care and treatment approach.

Children with residual neurologic disease may require medical interventions for developmental delay, spasticity, and bulbar dysfunction, in addition to oral biotin treatment. Spasticity and dystonia associated with inborn errors of metabolism have been treated with intrathecal baclofen and neurotoxins.^[30]

Consultations

A pediatric neurologist, metabolic disorder specialist, and geneticist should assist in the patient’s workup and evaluation.^[31]

A pediatric neurologist and a pediatrician skilled in the evaluation of a child who is delayed and neurologically impaired should establish continuity of care and perform follow-up examinations, as well as procedures to document residual neurological insult. Children with residual neurologic injury as noted with spasticity or dystonia should receive ongoing physical therapy to prevent long-term orthopedic deterioration.

A medical genetics team, including a genetic counselor, should be referred to explain the genetics of biotinidase deficiency and to offer support and resources to patients and family members.

Medication

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Media Gallery

Biotin structure.

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Author

Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center

Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Christian J Renner, MD Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

Disclosure: Nothing to disclose.

Acknowledgements

Ronald G Davis, MD, MPH, FAAP Assistant Clinical Professor, Child Neurology, Florida State University; Owner and Medical Director of Pediatric Neurology, PA and Pediatric Neurology Epilepsy Center of Central Florida; Medical Director of Epileptology, Arnold Palmer Hospital for Women and Children in Orlando, Florida; Medical Director, Central Florida Muscular Dystrophy Association Clinic

Ronald G Davis, MD, MPH, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose. Marc P DiFazio, MD Associate Professor, Department of Neurology, Uniformed Services University of the Health Sciences; Director, Pediatric Subspecialty Services, Shady Grove Adventist Hospital for Children

Marc P DiFazio, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Cerebral Palsy and Developmental Medicine, American Academy of Neurology, Child Neurology Society, and Movement Disorders Society

Disclosure: Nothing to disclose.