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Query: UMLS:C0042875 (vitamin E deficiency)
 916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Although a neuromuscular syndrome has been induced experimentally by vitamin E deficiency, a human syndrome has not yet been documented. This report describes a 7-year-old boy with severe malabsorption since birth who presented with progressive external ophthalmoplegia, proximal muscle weakness, peripheral neuropathy, hyporeflexia, and bilateral Babinski signs. Abnormalities on neurologic examination included elevated creatine phosphokinase and aldolase, slowed distal sensory latencies, type II muscle fiber atrophy, and a plasma vitamin E level of 8 microgram per deciliter (normal, 550-1500 microgram per deciliter). Treatment with oral water-solubilized vitamin E (400 IU daily; greater than 50 times the normal daily intake) was begun, with repeat laboratory studies at 3-month intervals. Over a 16-month period, plasma vitamin E content gradually increased to 350 microgram per deciliter, associated with declining sarcoplasmic enzyme activities and clinical improvement.
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PMID:Reversibility of human myopathy caused by vitamin E deficiency. 57 10

In thalassemia major (TM) one third of patients suffers from muscle wasting, weakness and cramps. Six patients with TM were studied. All had muscle wasting and proximal weakness; serum levels of vitamin E were low (0.6-7.0 micrograms/dl) while CPK, LDH and aldolase were normal. EMG revealed low-amplitude short-duration polyphasic potentials in 3 patients and normal activity in 3 others. Nerve conduction velocities were normal in 3 patients studied. On muscle biopsies, moderate variation in fiber size with fiber atrophy and preponderance of type 1 fibers were discovered. Our findings confirm the existence of nonspecific myopathic changes in TM. Chronic vitamin E deficiency should be considered in the pathogenesis of the myopathy in TM.
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PMID:Myopathological findings in thalassemia major. 228 8

Patients with cystic fibrosis (CF) and pancreatic malabsorption frequently have vitamin E deficiency. Affected patients may develop spinocerebellar degeneration with dysarthria, ataxia, proximal weakness, proprioceptive loss and areflexia. Of a highly selected group of 10 patients with vitamin E levels below 5 micrograms/ml (normal 5-20 micrograms/ml), 7 had abnormal neurological examinations, predominantly affecting vibration and joint position perception with some severely affected patients manifesting diminished visual acuity, tremor, ataxia and diffuse weakness. Evoked potential studies showed marked abnormalities in 3 patients, demonstrating deficits in the optic pathways and in the cervical cord dorsal column pathways. Evoked potential studies may supplement careful neurological examination in patients with CF before and after supplementation with vitamin E to evaluate their progression and response to treatment.
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PMID:Visual and somatosensory evoked potentials in vitamin E deficiency with cystic fibrosis. 245 91

A 41-yr-old woman with primary biliary cirrhosis developed weakness and wasting in proximal muscles, areflexia, and decreased proprioceptive and vibratory sensation. Investigations revealed law serum levels of vitamin E and electromyographic and muscle biopsy changes consistent with a neuropathy. Sural nerve histology demonstrated axonal dystrophy with patchy demyelination. These features closely resemble a neurologic syndrome associated with chronic cholestatic liver disease and vitamin E deficiency in children. Adults with chronic cholestasis may also be susceptible to neurologic damage from prolonged malabsorption of vitamin E.
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PMID:Neurologic syndrome associated with low levels of vitamin E in primary biliary cirrhosis. 301 81

We report the cases of two adult patients with cystic fibrosis affecting the pancreas and liver, who also had severe vitamin E deficiency and neurologic disease. The most prominent clinical features were abnormal eye movements, diminished reflexes, decreased vibratory and position sense, ataxia, and muscle weakness. Treatment with intramuscular injections of vitamin E partially corrected the neurologic deficits. Vitamin E absorption tests documented severe malabsorption, which was later alleviated by the addition of dessicated ox bile to the regimen of alpha-tocopheryl acetate. These studies suggest that a decreased intraluminal concentration of bile salts is an important factor in the development of severe vitamin E deficiency and in the poor response to oral replacement therapy that is seen in some patients with cystic fibrosis.
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PMID:Vitamin E deficiency and neurologic disease in adults with cystic fibrosis. 359 48

We describe nine patients with fat malabsorption in whom a spectrum of vitamin E deficiency was present. Early deficiency was generally asymptomatic, and intermediate deficiency produced some impairment. Ataxia, weakness, reflex changes, impaired vision, and pigment retinopathy were associated with chronic, advanced deficiency. In the last group, delayed central somatosensory conduction and amplitude reduction of the electroretinogram were present. In adults, a severe vitamin E deficiency state existed for more than 5 years before producing measurable neurologic damage. The clinical picture is less homogeneous than previously suggested, and electrophysiologic abnormalities need not predate clinical dysfunction.
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PMID:The spectrum of neurologic disorder from vitamin E deficiency. 371 53

Previous studies of metabolic changes in vitamin E-deficient animals were often difficult to interpret because the vitamin E-free, high PUFA diets used in such studies may have contained high levels of peroxides. Presumed effects of vitamin E deficiency could have been effects of peroxide consumption. Addition of the non-absorbable polymeric antioxidant Anoxomer to a semisynthetic vitamin E-free diet containing cod liver oil was found to suppress peroxide formation. Nevertheless, this diet produced necrotizing myopathy, characterized by high urinary creatine excretion, muscular weakness, and increased rate of incorporation of [1-14C] glycine into muscle proteins. These effects were prevented by vitamin E supplementation. The increased rate of muscle protein turnover is obviously the result of vitamin E deficiency, not the result of consumption of dietary peroxides.
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PMID:Vitamin E deficiency in rabbits receiving a high PUFA diet with and without a non-absorbable antioxidant. 1. Incorporation of [1-14C]glycine into skeletal muscle proteins. 375 Nov 56

Rats fed a protein-deficient synthetic diet developed hind limb weakness caused by a myopathy with myotonic features on electromyography. Deficiency of vitamin E and selenium, known causes of nutritional myopathy, were excluded. Methionine supplementation of the diet reversed the clinical signs of weakness within 12 h.
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PMID:Reversible nutritional myopathy with myotonia in the protein-deficient rat given methionine. 403 3

We describe a 14-year-old boy who was severely debilitated by the neurological syndrome associated with vitamin E deficiency secondary to chronic cholestatic liver disease. In addition to the usual neurological deficits described with this deficiency, the patient had severe bulbar weakness and vision loss which we attribute to the degree and duration of his vitamin E deficiency. Vitamin A deficiency may have contributed to his visual disturbance. Early recognition of vitamin E deficiency is important, as the neurological and visual disorders which result are treatable.
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PMID:Vitamin E deficiency associated with vision loss and bulbar weakness. 408 54

Several authors have recently reported a neurological disorder associated with chronic vitamin E deficiency in man. Except in one patient, this deficiency has always been secondary to an underlying disease resulting in lipid malabsorption. We report a second case of such a neurological syndrome in a patient in whom vitamin E deficiency was an isolated finding. The clinical picture in our patient was characterized by a diffuse muscle weakness most prominent distally and in the lower limbs, generalized areflexia, a decrease in proprioception and vibration sense and slight limb and gait ataxia. His condition improved on alpha tocopherol therapy so that it is very likely that vitamin E deficiency is responsible for his neurological deficit. Since in our patient as well as in several other reported cases this condition has been treatable, it is important that this syndrome be recognized in children presenting a suggestive clinical picture even if they do not have lipid malabsorption.
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PMID:A progressive neurological syndrome associated with an isolated vitamin E deficiency. 650 2


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