Disease Information for Vitamin E deficiency/dependence familial ataxia

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Clinical Manifestations
Signs & Symptoms
Ataxia
Gait disturbance/abnormality
Position sense decreased/proprioception
Staggering Gait
Unsteadiness movement/Gait in a child
Vibratory sense decreased
Vibratory sense decreased Legs
Eyelid Retraction
Laboratory Tests
Abnormal Lab Findings - Increased
CPK/CK/Creatine kinase/Creatine phosphokinase (Lab)
Diagnostic Test Results
Pathology
BX/Muscle biopsy/Ceroid deposition
Associated Diseases & Rule outs
Rule Outs
Ataxia-telangiectasia
Tabes dorsalis
Associated Disease & Complications
Ataxia Disorder
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Gene locus 8q13.1-q13.3
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Acquired Neuropathy
Pathophysiology/Hereditary Neuropathy
Pathophysiology/Inherited Biochemical Neuropathy
Pathophysiology/Gene locus chromosome 8
Synonyms
Synonym
DEFIC VITAMIN E, Deficiencies Vitamin E, Deficiency of vitamin E, deficiency vitamin E, Hypovitaminosis E, vitamin deficiency E, VITAMIN E DEFIC, Vitamin E Deficiencies, Vitamin E deficiency, Vitamin E deficiency (disorder), Vitamin E deficiency disease, Early Onset Ataxia/Children, Synonym/AVED
Definition

gene locus 8q13-q13-3; In general, tocopherols act as antioxidants to prevent lipid peroxidation of polyunsaturated fatty acids in cellular membranes; The antioxidant activity of tocopherol is similar to that of glutathione peroxidase, which contains selenium; the main manifestations of vitamin E deficiency are (1) mild hemolytic anemia associated with increased erythrocyte hemolysis and (2) spinocerebellar disease , which occurs mainly in children who have fat malabsorption due to abetalipoproteinemia, chronic cholestatic hepatobiliary disease, celiac disease, or a genetic abnormality in vitamin E metabolism; Retinopathy of prematurity, also called retrolental fibroplasia, may improve with vitamin E therapy, as may some cases of intraventricular and subependymal; and hemorrhage in the newborn; Infants are born in a state of relative vitamin E deficiency, with plasma -tocopherol levels below 5 µg/mL; The smaller and more premature the infant, the greater the degree of deficiency; Vitamin E deficiency in premature infants persists during the first few weeks of life and can be attributed to limited placental transfer of vitamin E, low tissue levels at birth, relative dietary deficiency in infancy, intestinal malabsorption, and rapid growth;

As the digestive system matures, vitamin E absorption improves, and blood vitamin E levels rise; malabsorption generally underlies vitamin E deficiency; Genetic abnormality in the transport of vitamin E can also play a role; Hemolytic anemia in premature infants may be a manifestation of vitamin E deficiency; Such an infant has hemoglobin levels ranging from 7 to 9 g/dL, low plasma vitamin E levels, reticulocytosis, and hyperbilirubinemia; Children with chronic cholestatic hepatobiliary disease or cystic fibrosis manifest the neurologic syndrome of vitamin E deficiency; Its signs are spinocerebellar ataxia with loss of deep tendon reflexes, truncal and limb ataxia, loss of vibration and position sense, ophthalmoplegia, muscle weakness, ptosis, and Dysarthria;

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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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