Vitamin B-6 Dependency Syndromes Workup

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

Laboratory Studies

  • Perform hematology tests, a sepsis screen, and metabolic (profile) tests.
  • Plecko et al have confirmed pipecolic acid (PA) levels are elevated in the plasma of patients with pyridoxine (vitamin B-6)–dependent seizure (PDS) both before and after treatment with pyridoxine.[14] Furthermore, alpha amino adipic semialdehyde (AASA) levels are also elevated in plasma, urine, and cerebrospinal fluid (CSF).[17] They have recommended PA and AASA levels in plasma and urine be used as markers to select for patients who need molecular analysis of the antiquitin gene.[16]
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Imaging Studies

  • Despite several reports about imaging studies, no typical abnormality has been found in PDS.[1, 2]
  • A high prevalence of structural CNS defects has been reported, as well as varying degrees of grey and white matter atrophy, thinning of the corpus callosum, and the presence of mega cisterna magna.[1]
  • Progressive cortical-white matter atrophy and ventricular dilation is also present in inadequately treated patients with PDS.[1, 2]
  • Hydrocephalus of unknown origin can also occur.
  • Baxter reports apparent cysts adjacent to the lateral ventricles in some neonatal-onset ultrasonographic images.
  • CT scanning and MRI reveal structural abnormalities in the brain in addition to white matter abnormalities.[2]
  • CT scanning and MRI do not have a well-established role in the diagnosis of PDS.[1]
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Other Tests

  • Following pyridoxine administration, the EEG usually takes 2-6 minutes to normalize. The pattern is typically suggestive of diffuse and focal dysfunction and may show focal discharges; however, some EEG patterns have been normal (ie, bursts or runs of high-voltage, relatively bilateral synchronous sharp and slow [1-4 Hz] wave activity [either ictally or interictally]).[1]
  • EEG does not have a well-established role in the diagnosis of PDS. One report suggests that the abnormal EEG is a result of the administration of anticonvulsants to the patient prior to the diagnosis of PDS.[13]
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Procedures

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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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