eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Biotinidase Deficiency: Treatment & Medication

Author: 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
Coauthor(s): 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
Contributor Information and Disclosures

Updated: May 27, 2009

Treatment

Medical Care

  • Therapy for biotinidase deficiency is oral biotin, typically administered at an initial dose of 10 mg/d.
  • Some patients require higher dosages. If the enzymatic defect is present but does not respond to lower dosages, consider a high-dose therapy (up to 40 mg/d).
  • If children are left with residual neurological disease, they may require treatments for developmental delay, spasticity, and bulbar dysfunction in addition to biotin. Newer treatments for spasticity and dystonia associated with inborn errors of metabolism have been reported, including intrathecal baclofen and neurotoxins.

Consultations

  • An experienced child neurologist, metabolic specialist, or geneticist should assist in the workup and evaluation.
  • A neurologist or a pediatrician skilled in the evaluation of a child who is neurologically impaired should perform follow-up examinations and procedures to document residual neurological injury.
  • Children with residual neurologic injury that causes spasticity or dystonia should receive ongoing physical therapy to prevent long-term orthopedic deterioration.

Medication

Vitamins and cofactors

Organic substances required by the body in small amounts for various metabolic processes. Used clinically for the prevention and treatment of specific deficiency states. Biotin is the DOC for biotinidase deficiency.


Biotin

An essential coenzyme in fat metabolism and in other carboxylation reactions. Biotin deficiency may result in the urinary excretion of organic acids and changes in skin and hair. Functions as a coenzyme or a prosthetic group in all 4 of the body's carboxylases. Each of these carboxylases maintain critical roles in intermediary metabolism. In these enzymes, biotin serves as a carrier for CO2.

Adult

10-40 mg/d PO

Pediatric

6-40 mg/d PO

PO anticonvulsant medications may impair biotin absorption

Pregnancy

A - Fetal risk not revealed in controlled studies in humans

Precautions

None reported

More on Biotinidase Deficiency

Overview: Biotinidase Deficiency
Differential Diagnoses & Workup: Biotinidase Deficiency
Treatment & Medication: Biotinidase Deficiency
Follow-up: Biotinidase Deficiency
Multimedia: Biotinidase Deficiency
References
Further Reading
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References

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Keywords

biotinidase deficiency, infantile multiple carboxylase deficiency, juvenile carboxylase deficiency, late-onset multiple carboxylase deficiency, deficiency of free biotin, abnormalities in fatty acid synthesis, abnormal amino acid catabolism, abnormalities in gluconeogenesis, holocarboxylase synthetase deficiency, sudden infant death syndrome, failure to thrive, hearing loss, treatment, diagnosis

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Contributor Information and Disclosures

Author

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, Association of Military Surgeons of the US, and Child Neurology Society
Disclosure: Nothing to disclose.

Coauthor(s)

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.

Medical Editor

Christian J Renner, MD, Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Margaret M McGovern, MD, PhD, Professor and Chair of Pediatrics, Stony Brook University, New York
Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Genzyme Grant/research funds PI

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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