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

Biotinidase Deficiency: Follow-up

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

Follow-up

Complications

  • Failure to recognize and treat patients with biotinidase deficiency may lead to permanent neurological, ophthalmological, and audiological damage. Ultimately, death can occur.
  • The importance of early recognition and treatment is emphasized by recent data that demonstrate that children identified based on newborn screening and treated before they exhibited clinical signs were healthy upon a subsequent examination. In the same study, children treated after the development of clinical signs of biotinidase deficiency were more likely to experience residual neurologic difficulties.
  • Routine preventative guidelines for infants and children have been established by the Michigan Quality Improvement Consortium.11
  • Immunological disruption may result in fulminant fungal infections.

Prognosis

  • With treatment, patients have an excellent prognosis and potential for a normal lifestyle.

Miscellaneous

Medicolegal Pitfalls

  • Due to the varied presentation in biotinidase deficiency and the potentially treatable nature, consider testing in children with unexplained seizures, encephalopathy, acidosis, optic atrophy, developmental delay, or paraparesis. Testing remains relatively inexpensive to perform.
  • Because parents subsequently may have a similarly affected child, genetic counseling needs to be offered prior to pregnancy. Test all children for the deficiency.
 


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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  2. Wolf B, Hsia YE, Sweetman L, et al. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Pediatrics. Jul 1981;68(1):113-8. [Medline].

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  5. Perez-Monjaras A, Cervantes-Roldan R, Meneses-Morales I, et al. Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. J Biol Chem. Dec 5 2008;283(49):34150-8. [Medline].

  6. Chedrawi AK, Ali A, Al Hassnan ZN, Faiyaz-Ul-Haque M, Wolf B. Profound biotinidase deficiency in a child with predominantly spinal cord disease. J Child Neurol. Sep 2008;23(9):1043-8. [Medline].

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  11. [Guideline] Michigan Quality Improvement Consortium. Routine preventive services for infants and children (birth-24 months). May 2007;[Full Text].

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  13. Baumgartner ER, Suormala TM, Wick H, et al. Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. Pediatr Res. Sep 1989;26(3):260-6. [Medline].

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  34. Wolf B. Biotinidase Deficiency: New Directions and Practical Concerns. Curr Treat Options Neurol. Jul 2003;5(4):321-328. [Medline].

  35. Wolf B, Grier RE, Allen RJ, et al. Phenotypic variation in biotinidase deficiency. J Pediatr. Aug 1983;103(2):233-7. [Medline].

  36. Wolf B, Jensen K, Huner G, et al. Seventeen novel mutations that cause profound biotinidase deficiency. Mol Genet Metab. Sep-Oct 2002;77(1-2):108-11. [Medline].

  37. Wolf B, Pomponio RJ, Norrgard KJ, et al. Delayed-onset profound biotinidase deficiency. J Pediatr. Feb 1998;132(2):362-5. [Medline].

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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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