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$Unique_ID{BRK04314}
$Pretitle{}
$Title{Vitamin E Deficiency}
$Subject{Vitamin E Deficiency Tocopherol Deficiency Friedreich's Ataxia
Marie's Ataxia Olivopontocerebellar Atrophy Charcot-Marie-Tooth Disease }
$Volume{}
$Log{}

Copyright (C) 1989, 1990 National Organization for Rare Disorders, Inc.

658:
Vitamin E Deficiency

** IMPORTANT **
It is possible that the main title of the article (Vitamin E Deficiency)
is not the name you expected.  Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     Tocopherol Deficiency

Information on the following diseases can be found in the Related
Disorders section of this report:

     Friedreich's Ataxia
     Marie's Ataxia
     Olivopontocerebellar Atrophy
     Charcot-Marie-Tooth Disease

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.

Vitamin E Deficiency is extremely rare, except in people who have a
disease that causes vitamin malabsorption.  It is characterized by an
abnormally low level of this vitamin in the blood.  Vitamin E Deficiency may
lead to a rare, progressive neuromuscular disease which is characterized by
loss of reflexes (areflexia), loss of balance and impaired sensations.  This
disorder occurs most often in infants who have an impairment of their bile
flow due to a disease.

Symptoms

The first sign of the Vitamin E Deficiency, 'Neurologic Syndrome', is usually
a decrease or loss of reflexes (areflexia).  This may progress to loss of
coordination (ataxia), balance, and muscle weakness of the arms and legs.
There may be walking difficulties such as stumbling and staggering
(titubation) and abnormal posturing.  Abnormal eye movements
(ophthalmoplegia) and extreme slowness of movement (bradykinesia) may occur.
Sensation of pain, vibration, and position may be impaired.

Vitamin E Deficiency in premature and low-birth-weight infants may cause
abnormal destruction of red blood cells (hemolytic anemia).  The disorder
primarily occurs in babies who have an impairment of their bile flow.

Causes

Vitamin E, a fat soluble vitamin, is needed in very small amounts.  It is
stored in the body's fat.  Therefore, it is not necessary to consume vitamin
E daily, as long as adequate amounts are stored in the body from a well
balanced diet.  Vitamin E is found in various foods including vegetable oils,
wheat germ, whole-grain cereals, egg yolk, and liver.

Rarely is Vitamin E Deficiency caused by poor diet.  It usually is caused
by an underlying disease that impairs the absorption of this vitamin from
fat.  Common underlying diseases are fat malabsorption disorders, liver
diseases, or disorders of bile secretion.  The liver stores the Vitamin E-
containing fat.  Bile breaks down dietary fat in the small intestine so that
vitamins can be absorbed.

Vitamin E malabsorption commonly occurs with Cholestasis (a syndrome of
various causes characterized by impaired bile secretion) and less commonly
with Cystic Fibrosis (primarily a lung disorder that may also affect bile
secretion).  Malabsorption of Vitamin E may also occur in Primary Biliary
Cirrhosis (a liver disorder that results in cholestasis) and Acanthocytosis
or Abetalipoproteinemia (a digestive disorder characterized by fat
malabsorption).

For more information on the above disorders, choose "cholestasis,"
"cystic fibrosis," "acanthocytosis," and "Primary Biliary Cirrhosis" as your
search terms in the Rare Disease Database.)

Recent research investigating the cause of Vitamin E Deficiency in
patients with no underlying disease has suggested an inherited defect of
vitamin E storage.

Affected Population

Vitamin E Deficiency is extremely rare in the absence of an underlying
disorder.  It is more common in infants, children, and young adults than in
adults.  It affects males and females in equal numbers except when an
underlying disorder affects one sex more readily.

Approximately 1 in 5,000 infants have an impairment of their bile flow
due to liver diseases such as hepatitis or biliary atresia.  Vitamin E
Deficiency in these infants causes degenerative progressive neuromuscular
disease.

Related Disorders

Symptoms of the following disorders can be similar to those of the
"Neurologic Syndrome" caused by Vitamin E Deficiency.  Comparisons may be
useful for a differential diagnosis:

Friedreich's Ataxia is a hereditary neuromuscular syndrome characterized
by slow degenerative changes of the spinal cord and the brain.  Dysfunction
of the central nervous system affects coordination of the muscles in the
limbs.  Staggering, lurching, or trembling may occur while standing or
walking.  Partial loss of the sense of touch or sensitivity to pain and
temperature may also occur.  Reflexes may decrease or disappear and numbness
or weakness of the arms and legs may develop.  Speech may be impaired.
Curvature of the spine (scoliosis), abnormally high arches with hyperextended
big toes, Diabetes Mellitus, and irregular heart function may also occur.
This form of ataxia usually first appears in adolescents.  (For more
information on this disorder, choose "Friedreich's Ataxia" as your search
term in the Rare Disease Database).

Marie's Ataxia is a hereditary disorder of impaired muscle coordination
usually beginning during young adulthood or middle age.  It is characterized
by unsteady walking and muscle weakness in the legs, head, neck, and arms.
Unsteadiness in walking, impaired coordination of the arms, and impaired
speech may occur.  Swallowing and clearing of secretions (as from the lungs)
can become difficult.  Reflex abnormalities, involuntary muscle contractions,
and altered pain and touch sensations may also occur.  (For more information
on this disorder, choose "Marie's Ataxia" as your search term in the Rare
Disease Database).

Olivopontocerebellar Atrophy is a group of inherited forms of Ataxia
characterized by progressive degeneration of part of the brain.  Loss of
muscle coordination, tremors, involuntary movements, and speech problems
(dysarthria) are common.  Sensory loss, degeneration of the light-sensitive
layer of the eye (retina), abnormal eye movements (ophthalmoplegia), and
problems in walking, writing, and thinking may occur in certain forms of this
disorder.  Olivopontocerebellar Atrophy usually affects older adults.  (For
more information on this disorder, choose "Olivopontocerebellar" as your
search term in the Rare Disease Database).

Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy, also known as CMT
Disease,) is a slowly progressive, hereditary neuromuscular disorder.  It is
characterized by weakness and atrophy of the legs and later the hands and
forearms.  An extremely high arch and flexed toes may cause difficulty in
walking.  Impaired sensations of vibration, pain, touch, and heat may occur.
Stretch reflexes may be absent.  This disease usually appears during middle
childhood and adulthood.  (For more information on this disorder, choose
"CMT" as your search term in the Rare Disease Database).

Therapies:  Standard

Treatment of Vitamin E Deficiency with very large oral supplements of Vitamin
E is not effective.  Alpha tocopherol, alpha tocopheryl acetate, and alpha
tocopheryl succinate have not been used successfully.  If the disorder is
caused by an underlying disease, treatment to correct the defect (e.g.
removal of the obstruction in the bile duct) when possible, is the primary
treatment.

Therapies:  Investigational

Since Vitamin E Deficient patients do not respond to oral Vitamin E, other
treatments are being investigated.

Injection of an investigational form of vitamin E (dl-alpha-tocopherol)
into muscles is being studied.  In some cases it has stabilized or reversed
the neurologic symptoms caused by Vitamin E Deficiency.  This experimental
drug is manufactured by Hoffmann-La Roche.

A water-soluble form of Vitamin E (d-alpha tocopheryl polyethylene
glycol-1000 succinate, or TPGS), which does not require bile to be absorbed
from the intestine, is being investigated under a grant from the National
Organization for Rare Disorders (NORD) by Dr. Ronald Sokol of the University
of Colorado.  Preliminary studies indicate that it may stabilize or reverse
neurologic dysfunction in infants with bile duct obstruction.

Participants in this study must be older than six months and under 20
years of age.  Their Vitamin E Deficiency must be caused by some form of
cholestatic hepatobiliary liver disease.  Physicians with patients who are
interested in participating in this study should contact:

     Ronald J. Sokol, M.D.
     Associate Professor of Pediatrics
     University of Colorado School of Medicine
     Box C228
     4200 East Ninth Avenue
     Denver, CO  80262
     [phone]

This disease entry is based upon medical information available through
January 1990.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Vitamin E Deficiency, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     National Digestive Diseases Information Clearinghouse
     P.O. Box NDDIC
     Bethesda, MD  20892
     [phone]

     American Liver Foundation
     1425 Pompton Ave.
     Cedar Grove, N.J.  07009
     [phone]
     [phone]

     The United Liver Foundation
     11646 West Pico Blvd.
     Los Angeles, CA  90064
     [phone] or 445-4200

     Children's Liver Foundation
     14245 Ventura Blvd.
     Sherman Oaks, CA  91423
     [phone]

References

INTERNAL MEDICINE, 2nd Ed.:  Jay H. Stein, ed.-in-chief; Little, Brown and
Co., 1987.  Pp. 278, 282-283.

INTRAMUSCULAR VITAMIN E REPLETION IN CHILDREN WITH CHRONIC CHOLESTASIS:
D.H. Perlmutter, et al.; Am J Dis Child (February, 1987:  issue 141(2)).  Pp.
170-174.

VITAMIN E DEFICIENCY AND NEUROLOGIC DISEASE IN ADULTS WITH CYSTIC
FIBROSIS:  M.D. Sitrin, et al.; Ann Intern Med (July, 1987:  issue 107(1)).
Pp. 51-54.

VITAMIN E DEFICIENCY LINKED TO LIVER DISEASE IN CHILDREN:  C. Pierce;
Research Resources Reporter (October, 1986); National Institutes of Health.
Pp. 7-9.