Test Id : VITAE

Ship specimen in amber vial to protect from light.

Patient Preparation: Patient should fast overnight (12-14 hours); infants should have specimen collected before next feeding.

Supplies: Amber Frosted Tube, 5 mL (T915)

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Amber vial

Specimen Volume: 1 mL

Collection Instructions: Centrifuge and aliquot serum into light protected plastic vial within 2 hours of collection.

0.5 mL

Diagnosing vitamin A deficiency and toxicity

Evaluating persons with intestinal malabsorption of lipids

Monitoring of Vitamin E supplementation/treatment

Vitamin A:

The level of vitamin A in the plasma or serum is a reflection of the quantities of vitamin A and carotene ingested and absorbed by the intestine (carotene is converted to vitamin A by intestine absorptive cells and hepatocytes).

Vitamin A plays an essential role in the function of the retina (adaptation to dim light), is necessary for growth and differentiation of epithelial tissue, and is required for growth of bone, reproduction, and embryonic development. Together with certain carotenoids, vitamin A enhances immune function, reducing the consequences of some infectious diseases.

Degenerative changes in eyes and skin are commonly observed in vitamin A deficiency. Poor adaptation of vision to darkness (night blindness) is an early symptom that may be followed by degenerative changes in the retina. In developing countries, vitamin A deficiency is the principal preventable cause of blindness. Severe or prolonged deficiency leads to dry eye (xerophthalmia), which can result in corneal ulcers, scarring, and blindness. Another important consequence of inadequate intake is acquired immunodeficiency disease, with an increased incidence of death related to infectious diseases. In patients with HIV, vitamin A deficiency is associated with increased disease progression and mortality.

Vitamin A in excess can be toxic. In particular, chronic vitamin A intoxication is a concern in normal adults who ingest more than 15 mg per day and in children who ingest more than 6 mg per day of vitamin A over a period of several months. Manifestations are various and include dry skin, cheilosis, glossitis, vomiting, alopecia, bone demineralization and pain, hypercalcemia, lymph node enlargement, hyperlipidemia, amenorrhea, and features of pseudotumor cerebri with increased intracranial pressure and papilledema. Liver fibrosis with portal hypertension and bone demineralization may also result. Congenital malformations, like spontaneous abortions, craniofacial abnormalities, and valvular heart disease have been described in pregnant women taking vitamin A in excess. Consequently, in pregnancy, the daily dose of vitamin A should not exceed 3 mg.

Vitamin E (alpha-tocopherol):

Vitamin E is the generic term for two different groups of methylated phenol compounds with a chromane alcoholic core linked to poly-carbon chains (tocopherols and tocotrienols).

These vitamins are all free radical scavengers, with alpha-tocopherol being the most potent one in humans, as most of the related compounds are not re-secreted by the liver, thus leading to much lower circulating concentrations.

Vitamin E deficiency is very rare and mostly seen in patients with extreme malabsorption of fat and in patients with abetalipoproteinemia, a rare inborn error of metabolism. Patients with these conditions may develop peripheral neuropathy, myopathy, retinopathy, and immune deficiency.

There is a large body of scientific studies that indicates positive effects on outcomes of various diseases if regular Vitamin E supplementation is provided; however, several trials have shown evidence of increasing bleeding risks at high Vitamin E doses. Therefore, tables of tolerable doses in children and adults have been established, which should not be exceeded.

Deficiencies of vitamins A and E may arise from poor nutrition or from intestinal malabsorption. Persons at risk, especially children, include those with bowel disease, pancreatic disease, chronic cholestasis, celiac disease, cystic fibrosis, and intestinal lymphangiectasia. Infantile cholangiopathies that may lead to malabsorption of vitamins A and E include intrahepatic dysplasia and rubella-related embryopathy.

VITAMIN A (RETINOL)

0-6 years: 11.3-64.7 mcg/dL

7-12 years: 12.8-81.2 mcg/dL

13-17 years: 14.4-97.7 mcg/dL

> or =18 years: 32.5-78.0 mcg/dL

VITAMIN E (ALPHA-TOCOPHEROL)

0-17 years: 3.8-18.4 mg/L

> or =18 years: 5.5-17.0 mg/L

Vitamin A:

The World Health Organization recommends supplementation when vitamin A levels fall below 20.0 mcg/dL. Severe deficiency is indicated at levels less than 10.0 mcg/dL. Vitamin A values above 120.0 mcg/dL suggest hypervitaminosis A and associated toxicity.

Vitamin E (alpha-tocopherol):

Vitamin E concentrations within the healthy reference population range usually indicate adequate Vitamin A stores.

The rare occurrence of low Vitamin A levels might correlate with potential deficiency and investigation of potential fat malabsorptions should be considered.

Conversely, Vitamin E concentrations significantly above the upper healthy reference population range might indicate that Vitamin E intake exceeds the tolerable upper daily intake level(s).

Testing of nonfasting specimens or the use of vitamin supplementation can result in elevated serum vitamin concentrations. Reference values were established using specimens from individuals who were fasting.

Acute ethanol ingestion may result in increased serum vitamin A levels.

1. Ball GFM. Vitamins: Their role in the human body. Blackwell Publishing; 2004:234-255

2. Ross AC. Vitamin A and carotenoids. In: Shils ME, Shike M, Ross MC, et al, eds. Modern Nutrition in Health and Disease. 10th ed. Lippincott Williams and Wilkins; 2006:351-375

3. Traber MG. Vitamin E. In: Shils ME, Shike M, Ross AC, et al, eds. Modern Nutrition in Health and Disease.10th ed. Lippincott Williams and Wilkins; 2006:434-441

4. Roberts NB, Taylor A, Sodi R. Vitamins and trace elements. In: Rifai N, Horvath AR, Wittwer CT, eds. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 6th ed. Elsevier; 2018:chap37

5. Sodi R. Vitamins and trace elements. In: Rifai N, Chiu RWK, Young I, Burnham C-AD, Wittwer CT, eds. Tietz Textbook of Laboratory Medicine. 7th ed. Elsevier; 2023:417-417.e104.

Deuterated vitamin A (d6-all-trans retinol) is added to serum as an internal standard. Vitamin A (all-trans retinol) and the deuterated internal standard are extracted from the specimens using on-line turbulent flow high performance liquid chromatography and analyzed by liquid chromatography tandem mass spectrometry using multiple reaction monitoring in positive mode.(Unpublished Mayo method)

Deuterated vitamin E (d6-alpha-tocopherol) is added to serum as an internal standard. Vitamin E (alpha-tocopherol) and the deuterated internal standard are extracted from the specimens and analyzed by liquid chromatography tandem mass spectrometry.(Unpublished Mayo method)

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This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

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