Vitamin B-6 Dependency Syndromes Treatment & Management

  • Author: Anjali Parish, MD; Chief Editor: Jatinder Bhatia, MBBS   more...
 
Updated: Nov 29, 2011
 

Medical Care

Recommended maintenance doses of pyridoxine (vitamin B-6) have ranged from 2-300 mg/d.[1, 2] Responses to treatment have included an improvement in the intelligence quotient (IQ) score and reversal of mental retardation in patents with pyridoxine-dependent seizure (PDS), depending on the dose on pyridoxine given. The suggested mechanism of this is normalization of CSF glutamate. Some studies have also found an improvement in the quality of behavior and IQ following an increase in the dose (150-500 mg/d) of pyridoxine given to older children with PDS.[1, 18]

Kuo et al suggested that pyridoxine phosphate should be considered as the drug of choice in atypical cases in children who do not respond to pyridoxine.[8] This is in an attempt to reduce failure rate and further delay in seizure control because pyridoxal phosphate is the active coenzyme for more that 100 enzymes. Further research is needed.

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Consultations

  • Neurologist
  • Metabolic physician/Geneticist
  • Eye specialist
  • Rehabilitation specialists - Dietitian, physiotherapist, speech pathologist, and occupational therapist
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Diet

Oral supplementation of vitamin B-6 is essential because dietary sources cannot be manipulated to achieve such a high requirement (100 mg/d). No other nutritional support specific to PDS is indicated; however, sequelae of this disease may increase the nutritional risk. According to the Dietary Guidelines for Children and Adolescents, ensuring nutritional adequacy of the diet is essential. This includes adequate vitamin B-6 intake, which meets recommended dietary intake specific to age and sex. Children with mental retardation often cannot achieve sufficient caloric requirements through oral intake alone; thus, supplementary feeding, including enteral feeding, may be indicated. A referral to a dietitian to ensure nutritional adequacy of the diet is recommended initially and then periodically as required.

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Activity

Physical activity has not been reported to be of special benefit in children with PDS.

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Contributor Information and Disclosures
Author

Anjali Parish, MD  Assistant Professor of Pediatrics, Department of Neonatology, Medical College of Georgia

Anjali Parish, MD is a member of the following medical societies: American Academy of Pediatrics and American Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Steven M Schwarz, MD, FAAP, FACN, AGAF  Professor of Pediatrics, Children's Hospital at Downstate, State University of New York Downstate Medical Center

Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research

Disclosure: Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor; Johnson & Johnson, Inc. Grant/research funds Independent contractor

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.

Jatinder Bhatia, MBBS  Professor of Pediatrics, Chief, Section of Neonatology, Department of Pediatrics, Medical College of Georgia

Jatinder Bhatia, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Dietetic Association, American Pediatric Society, American Society for Clinical Nutrition, American Society for Parenteral and Enteral Nutrition, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Merrily P M Poth, MD  Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences

Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Jatinder Bhatia, MBBS  Professor of Pediatrics, Chief, Section of Neonatology, Department of Pediatrics, Medical College of Georgia

Jatinder Bhatia, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Dietetic Association, American Pediatric Society, American Society for Clinical Nutrition, American Society for Parenteral and Enteral Nutrition, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Michael D Nissen, MBBS, BMedSc, FRACP, FRCPA; Catherine O'Neil, BHlthSc, APD; and Judith A Wilcox to the development and writing of this article.

References

  1. Gupta VK, Mishra D, Mathur I, Singh KK. Pyridoxine-dependent seizures: a case report and a critical review of the literature. J Paediatr Child Health. Dec 2001;37(6):592-6. [Medline].

  2. Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures. Dev Med Child Neurol. Jun 2001;43(6):416-20. [Medline].

  3. Yoshikawa H, Abe T, Oda Y. Pyridoxine-dependent seizures in an older child. J Child Neurol. Oct 1999;14(10):687-90. [Medline].

  4. Gerlach AT, Thomas S, Stawicki SP, Whitmill ML, Steinberg SM, Cook CH. Vitamin B6 deficiency: a potential cause of refractory seizures in adults. JPEN J Parenter Enteral Nutr. Mar 2011;35(2):272-5. [Medline].

  5. Hunt AD Jr, Stokes J Jr, McCrory WW, Stroud HH. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics. Feb 1954;13(2):140-5. [Medline].

  6. Burd L, Stenehjem A, Franceschini LA, Kerbeshian J. A 15-year follow-up of a boy with pyridoxine (vitamin B6)-dependent seizures with autism, breath holding, and severe mental retardation. J Child Neurol. Nov 2000;15(11):763-5. [Medline].

  7. Grillo E, da Silva RJ, Barbato JH Jr. Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine. Dev Med Child Neurol. Jun 2001;43(6):413-5. [Medline].

  8. Kuo MF, Wang HS. Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine. Pediatr Neurol. Feb 2002;26(2):146-7. [Medline].

  9. Kure S, Sakata Y, Miyabayashi S, et al. Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. J Hum Genet. 1998;43(2):128-31. [Medline].

  10. Battaglioli G, Rosen DR, Gospe SM Jr, Martin DL. Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. Neurology. Jul 25 2000;55(2):309-11. [Medline].

  11. Been JV, Bok LA, Andriessen P, Renier WO. Epidemiology of pyridoxine dependent seizures in the Netherlands. Arch Dis Child. Dec 2005;90(12):1293-6. [Medline].

  12. Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child. Nov 1999;81(5):431-3. [Medline].

  13. Baxter P. Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. Arch Dis Child Fetal Neonatal Ed. Sep 2000;83(2):F163. [Medline].

  14. Plecko B, Paul K, Paschke E, et al. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat. Jan 2007;28(1):19-26. [Medline].

  15. Kanno J, Kure S, Narisawa A, et al. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab. Aug 2007;91(4):384-9. [Medline].

  16. Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab. Sep-Oct 2011;104(1-2):48-60. [Medline].

  17. Hasumi H, Kamiyama Y, Nakasora S, Yamamoto Y, Hara M, Fujita Y. Cerebrospinal fluid and serum levels of vitamin B6 in status epilepticus children. Brain Dev. Aug 2011;33(7):580-8. [Medline].

  18. Ohtsuka Y, Ogino T, Asano T, et al. Long-term follow-up of vitamin B(6)-responsive West syndrome. Pediatr Neurol. Sep 2000;23(3):202-6. [Medline].

  19. Hindley D, Huyton M. Pyridoxine dependent and pyridoxine responsive seizures. Arch Dis Child. Jan 2001;84(1):91-2. [Medline].

 
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