Pyridoxine Deficiency Clinical Presentation

Updated: Sep 15, 2016
  • Author: Richard E Frye, MD, PhD; Chief Editor: George T Griffing, MD  more...
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Presentation

History

Contributing factors

Several factors contribute to an increased risk for pyridoxine deficiency, [12] as follows:

  • Advanced age

  • Medical conditions which may increase the risk for pyridoxine deficiency include the following:

  • Medical procedures which may increase the risk for pyridoxine deficiency include the following:

    • Hemodialysis

    • Peritoneal dialysis

    • Phototherapy for hyperbilirubinemia

  • Medications which may increase the risk for pyridoxine deficiency include the following:

    • Cycloserine

    • Hydralazine

    • Isoniazid

    • D-penicillamine

    • Pyrazinamide

  • Social-behavioral conditions which may increase the risk for pyridoxine deficiency include the following:

    • Excessive alcohol ingestion (except for pyridoxine-supplemented beer)

    • Tobacco smoking

    • Severe malnutrition

  • Other risk factors which may increase the risk for pyridoxine deficiency include the following:

    • Poisoning, such as Gyromitra mushroom poisoning

    • Perinatal factors, such as a pyridoxine-deficient mother

    • Inherited conditions, such as pyridoxine-dependent neonatal seizures [8, 9, 10]

Other patient history

A patient's medical history may include the following:

  • 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

Symptoms and conditions associated with low pyridoxine levels include the following:

  • 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)

Symptoms and conditions associated with secondary niacin deficiency (ie, pellagra) include the following:

  • 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

Causes of pyridoxine deficiency may include the following:

  • 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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