eMedicine Specialties > Pediatrics: General Medicine > Nutrition

Vitamin B-6 Dependency Syndromes: Treatment & Medication

Author: Anjali Parish, MD, Assistant Professor of Pediatrics, Department of Neonatology, Medical College of Georgia
Contributor Information and Disclosures

Updated: Nov 19, 2008

Treatment

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.1,15

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.7 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.

Consultations

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

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.

Activity

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

Medication

Vitamins

These agents are organic substances required by the body in small amounts for various metabolic processes. Vitamins may be synthesized in small or insufficient amounts in the body or not synthesized at all, thus requiring supplementation. Deficiency may result from an inadequate diet, increased requirements, or secondary to disease or drugs. They are used clinically for the prevention and treatment of specific vitamin deficiency states and are considered third-line treatment for both acute and chronic intractable seizure disorders in children younger than 2 years.


Pyridoxine (Vitamin B-6)

Necessary for normal metabolism of proteins, carbohydrates, and fats. Also involved in synthesis of GABA within the CNS. Indicated to treat pyridoxine-dependent disorders caused by enzyme deficiency or deficiency in enzyme activity. These disorders are responsive to pyridoxine administration, typically in high doses.

Adult

Initial test dose: Varies between 1 mg and 500 mg IV administered once; alternatively, 100 mg IM once
Additional doses: 100 mg IV/IM within 10 min after initial dose if EEG not improved; not to exceed a cumulative dose of 500 mg
Oral maintenance: May require continuous or periodic oral supplementation

Pediatric

IV/IM: Administer as in adults
Oral maintenance: 2 mg to 500 mg/d PO; adjust dose to allow greatest intellectual performance

Decreases levodopa effectiveness when used without carbidopa; decreases phenobarbital and phenytoin serum levels

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

May cause thrombocytopenic purpura, decreased folic acid levels, homocystinuria, or porphyria; prolonged, high doses may cause neurologic toxicity (eg, neuropathy, paralysis, sedation, hypotonia, seizures, impaired memory); monitor respiratory rate, heart rate, and blood pressure while administering large IV doses

More on Vitamin B-6 Dependency Syndromes

Overview: Vitamin B-6 Dependency Syndromes
Differential Diagnoses & Workup: Vitamin B-6 Dependency Syndromes
Treatment & Medication: Vitamin B-6 Dependency Syndromes
Follow-up: Vitamin B-6 Dependency Syndromes
References
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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. 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].

  5. 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].

  6. 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].

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

  8. 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].

  9. 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].

  10. 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].

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

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

  13. 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].

  14. 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].

  15. 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].

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

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Further Reading

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Keywords

pyridoxine-responsive convulsions, pyridoxine-dependent seizures, pyridoxine dependency–associated seizures, PDS, West syndrome, homocystinuria, myoclonic epilepsy, hemolytic-uremic syndromes, pyridoxal, pyridoxamine, pyridoxine deficiency, pyridoxine–deficient seizures, pyridoxine deficiency–associated seizures, vitamin B6, vitamin B6, vitamin B-6, nuts, meats, isoniazid, inborn disorder of metabolism, perinatal asphyxia , hypoxic-ischemia encephalopathy, tonic-clonic seizures, acute abdominal obstruction, respiratory distress, hydrocephalus

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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.

Medical Editor

Steven M Schwarz, MD, FAAP, FACN, AGAF, Professor of Pediatrics, Children's Hospital at Downstate, SUNY-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: TAP Pharmaceuticals Honoraria Speaking and teaching; Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing 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.

CME Editor

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 Lawson-Wilkins 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.

 
 
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