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Pyridoxine Deficiency Clinical Presentation

  • Author: Richard E Frye, MD, PhD; Chief Editor: George T Griffing, MD  more...
 
Updated: Jan 15, 2014
 

History

Factors that increase the risk for pyridoxine deficiency [12]

Other patient history

See the list below:

  • Sideroblastic anemia
  • Pregnancy - Pregnancy can cause a pyridoxine-deficient state; however, a change in the ratio of plasma PLP to pyridoxal does occur, thereby falsely suggesting a deficiency state if only serum PLP is measured.
  • Physical exercise - This may transiently increase plasma PLP levels.

Symptoms and conditions associated with low pyridoxine levels

See the list below:

  • General
    • Weakness
    • Dizziness
    • Inflammation[6, 7]
  • Cardiovascular
    • Atherosclerosis
    • Early myocardial infarction
    • Early stroke[7]
    • Recurrent venous thromboembolism
  • Hematologic - Fatigue resulting from anemia is an example.
  • Peripheral nervous system
    • Bilateral, distal limb numbness (appears early)
    • Bilateral, distal limb burning paresthesia (replaces numbness later in the course)
    • Distal limb weakness (rare)
  • Central nervous system (CNS)
    • Depression
    • Irritability
    • Confusion
    • Generalized seizures
    • White matter lesions
  • Gastrointestinal
    • Anorexia
    • Vomiting

Symptoms and conditions associated with secondary niacin deficiency (ie, pellagra)

See the list below:

  • Skin
    • Erythematous itching and burning
    • Blisters and vesicles
    • Hyperpigmentation and thickening
  • CNS
    • Depression
    • Anxiety
    • Irritability
    • Disorientation
    • Stupor
    • Coma
  • Gastrointestinal
    • Anorexia
    • Nausea
    • Abdominal discomfort and pain
    • Glossitis
    • Diarrhea
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Physical

Physical examination findings may include the following:

  • Oral
    • Glossitis
    • Cheilosis
  • Dermatologic - Seborrheic dermatitis is an example.
  • Adult, neurologic
    • Distal limb numbness and weakness
    • Impaired vibration and proprioception
    • Preserved pain and temperature
    • Sensory ataxia
    • Generalized seizures
  • Neonatal and young infant, neurologic
    • Hypotonia
    • Irritability
    • Restlessness
    • Focal, bilateral motor, or myoclonic seizures
    • Infantile spasms
  • Secondary niacin deficiency
    • Skin - Dermatitis over sun-exposed areas; blisters and vesicles; beefy red, raw tongue
    • CNS - Confusion, dementia, disorientation, rigid tone, primitive reflexes
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Causes

See the list below:

  • Pyridoxine intake is reduced in cases of severe malnutrition.
  • Pyridoxine absorption is reduced in elderly persons and in patients with intestinal disease or who have undergone surgery.
  • Pyridoxine clearance is enhanced by liver disorders, such as hepatitis, and by several medications.
  • Pyridoxine breakdown is enhanced in conditions associated with increased alkaline phosphatase levels.
  • Hematologic pathway enzymes with a low affinity for pyridoxine cause a microcytic-hypochromic pyridoxine-responsive anemia (ie, sideroblastic anemia). An X-linked inherited condition is observed in carrier females and affected males. An autosomal form of this disorder has been reported in a single family. Long-term alcohol ingestion and iatrogenically induced deficiencies can also result in this type of anemia.[15]
  • Hydrazones from isoniazid and certain mushrooms bind PLP to form isoniazid-hydrazone complexes, resulting in decreased pyridoxal availability for use in other reactions.
  • Pyridoxine-dependent seizures are caused by pyridoxine complexing with an excessive amount of Δ1 –piperideine 6-carboxylate, resulting in a pyridoxine deficiency. Excessive Δ1 –piperideine 6-carboxylate results from a deficiency in the enzyme α-aminoadipic semialdehyde dehydrogenase due to a mutation in the ALDH7A1 (antiquitin) gene.[16]
  • Low maternal pyridoxine levels can cause pyridoxine-responsive seizures.[11]
  • Excessive maternal pyridoxine supplementation can induce pyridoxine turnover, resulting in a higher requirement. Pyridoxine-responsive seizures may result.
  • Endogenous or exogenous estrogens can alter tryptophan metabolism by directly inhibiting kynureninase, a proximal, potentially rate-limiting enzyme in tryptophan metabolism. A pyridoxine-dependent compound, kynureninase is the same enzyme that is inhibited in the pyridoxine-deficient state. Altered tryptophan metabolism resulting from high estrogen levels may be attributed to a pyridoxine deficiency if the former is not considered.
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Contributor Information and Disclosures
Author

Richard E Frye, MD, PhD Associate Professor, Department of Pediatrics, University of Arkansas for Medical Sciences

Richard E Frye, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, International Neuropsychological Society, American Academy of Pediatrics

Disclosure: Nothing to disclose.

Coauthor(s)

Serge A Jabbour, MD, FACP, FACE Professor of Medicine, Division of Endocrinology, Diabetes and Metabolic Diseases, Jefferson Medical College of Thomas Jefferson University

Serge A Jabbour, MD, FACP, FACE is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Medical Association, American Thyroid Association, Endocrine Society, Pennsylvania Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

George T Griffing, MD Professor Emeritus of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, International Society for Clinical Densitometry, Southern Society for Clinical Investigation, American College of Medical Practice Executives, American Association for Physician Leadership, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical and Translational Research, Endocrine Society

Disclosure: Nothing to disclose.

References
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  2. Tierney LM, McPhee SJ, Papadakis MA, eds. Current Medical Diagnosis and Treatment. 40th ed. New York, NY: McGraw-Hill; 2001.

  3. Goetz CG. Vitamin deficiencies. Goetz CG, Pappert EJ, eds. Textbook of Clinical Neurology. Philadelphia, Pa: WB Saunders; 1999.

  4. Scriver CR, Gibson KM. Disorders of beta- and gamma-amino acids in free and peptide-linked forms. Scriver CR, Beaudet A, Sly W, et al, eds. The Metabolic Basis of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995. 1349-68.

  5. Beutler E, Lichtman MA, Coller BS, eds. Williams Hematology. 6th ed. New York, NY: McGraw-Hill; 2001.

  6. Chiang EP, Smith DE, Selhub J, et al. Inflammation causes tissue-specific depletion of vitamin B6. Arthritis Res Ther. 2005. 7(6):R1254-62. [Medline]. [Full Text].

  7. Kelly PJ, Kistler JP, Shih VE, et al. Inflammation, homocysteine, and vitamin B6 status after ischemic stroke. Stroke. 2004 Jan. 35(1):12-5. [Medline]. [Full Text].

  8. Kaczorowska M, Kmiec T, Jakobs C, et al. Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first Polish case with confirmed biochemical and molecular pathology. J Child Neurol. 2008 Oct 14. [Medline].

  9. Striano P, Battaglia S, Giordano L, et al. Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures. Epilepsia. 2008 Aug 19. [Medline].

  10. Khayat M, Korman SH, Frankel P, et al. PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. Mol Genet Metab. 2008 Aug. 94(4):431-4. [Medline].

  11. Morris MS, Picciano MF, Jacques PF, Selhub J. Plasma pyridoxal 5'-phosphate in the US population: the National Health and Nutrition Examination Survey, 2003-2004. Am J Clin Nutr. 2008 May. 87(5):1446-54. [Medline].

  12. Woolf K, Manore MM. Elevated plasma homocysteine and low vitamin B-6 status in nonsupplementing older women with rheumatoid arthritis. J Am Diet Assoc. 2008 Mar. 108(3):443-53; discussion 454. [Medline].

  13. Baggot PJ, Eliseo AJ, DeNicola NG, Kalamarides JA, Shoemaker JD. Pyridoxine-related metabolite concentrations in normal and Down syndrome amniotic fluid. Fetal Diagn Ther. 2008. 23(4):254-7. [Medline]. [Full Text].

  14. Balasa VV, Kalinyak KA, Bean JA, Stroop D, Gruppo RA. Hyperhomocysteinemia is associated with low plasma pyridoxine levels in children with sickle cell disease. J Pediatr Hematol Oncol. 2002 Jun-Jul. 24(5):374-9. [Medline].

  15. Camaschella C. Recent advances in the understanding of inherited sideroblastic anaemia. Br J Haematol. 2008 Oct. 143(1):27-38. [Medline].

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

  17. Huang SC, Wei JC, Lin PT, Wu DJ, Huang YC. Plasma pyridoxal 5'-phosphate is not associated with inflammatory and immune responses after adjusting for serum albumin in patients with rheumatoid arthritis: a preliminary study. Ann Nutr Metab. 2012. 60(2):83-9. [Medline].

  18. van Karnebeek CD, Hartmann H, Jaggumantri S, et al. Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials. Mol Genet Metab. 2012 Nov. 107(3):335-44. [Medline].

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