ABSTRACT
Autosomal recessive cerebellar ataxias belong to a broader group of disorders known as inherited ataxias. In most cases onset occurs before the age of 20. These neurological disorders are characterized by degeneration or abnormal development of the cerebellum and spinal cord. Currently, specific treatment is only available for some of the chronic ataxias, more specifically those related to a known metabolic defect, such as abetalipoproteinemia, ataxia with vitamin E deficiency, and cerebrotendinous xanthomatosis. Treatment based on a diet with reduced intake of fat, supplementation of oral vitamins E and A, and the administration of chenodeoxycholic acid could modify the course of the disease. Although for most of autosomal recessive ataxias there is no definitive treatment, iron chelators and antioxidants have been proposed to reduce the mitochondrial iron overload in Friederichs ataxia patients. Corticosteroids have been used to reduce ataxia symptoms in ataxia telangiectasia. Coenzyme Q10 deficiency associated with ataxia may be responsive to Co Q10 or ubidecarenone supplementations. Early treatment of these disorders may be associated with a better drug response.
Subject(s)
Cerebellar Ataxia/drug therapy , Cerebellar Ataxia/etiology , Friedreich Ataxia/drug therapy , Ataxia/drug therapy , Adrenal Cortex Hormones/therapeutic use , Muscle Weakness/drug therapy , Vitamin E Deficiency/complications , Chronic Disease , Mitochondrial Diseases/drug therapy , Humans , Iron-Binding Proteins/physiology , Ubiquinone/deficiency , Vitamin E/therapeutic useABSTRACT
A vitamina E é considerada um antioxidante biológico por manter a integridade das membranas celulares.Em adultos saudáveis a deficiência de vitamina E é raramente observada.Deficiências de vitamina E podem ser vistas em crianças prematuras ou de baixo peso e naqueles com dificuldades na absorção de gorduras.A suplementação de vitamina E na gravidez é desnecessária e somente deve ser realizada em casos raríssimos.
Subject(s)
Humans , Female , Pregnancy , Vitamin E Deficiency/complications , Prenatal Nutrition , Vitamin E/analysis , Vitamin E/metabolism , Vitamin E/therapeutic use , Fat Soluble Vitamins/analysis , Fat Soluble Vitamins/therapeutic useABSTRACT
Ataxia is a common and important neurological finding in medical practice. Severe deficiency of Vitamin E can profoundly affect the central nervous system and can cause ataxia and peripheral neuropathy resembling Friedreich's ataxia. Vitamin E deficiency can occur with abetalipoproteinemia, cholestatic liver disease or fat malabsorption. Ataxia with isolated Vit E deficiency (AVED) is an Autosomal Recessive genetic disorder with a mutation in the alpha tocopherol transfer protein gene (TTPA). This condition responds to high dose of Vit E and is one of the important causes of treatable ataxia. We report a young patient with Ataxia with isolated Vit E deficiency (AVED) who responded partially to replacement of Vitamin E.
Subject(s)
Adolescent , Carrier Proteins/genetics , Cerebellar Ataxia/etiology , Female , Humans , Vitamin E Deficiency/complicationsABSTRACT
Se detallan signos y síntomas de cuadros subclínicos de deficienias nutricionales, en pacientes atendidos en consultorios odontológicos. Descubrirlos a tiempo, permite efectuar acciones de protección y prevención de la salud, induciendo cambios en su alimentación. Lo importante es mejorar el nivel de vida, modificando de a poco, gradualmente, los malos hábitos higiénico dietéticos individuales para acostumbrarse a una alimentación variada y equilibrada, comiendo de todo moderadamente, evitando así los excesos
Subject(s)
Humans , Male , Female , Child, Preschool , Adult , Middle Aged , Deficiency Diseases/complications , Deficiency Diseases/diagnosis , Feeding Behavior , Oral Health/standards , Avitaminosis/complications , Ascorbic Acid Deficiency/complications , Hypoproteinemia/complications , Medical History Taking , Mouth Diseases/etiology , Mouth Diseases/prevention & control , Nutrition Disorders/diagnosis , Vitamin A Deficiency/complications , Vitamin B Deficiency/complications , Vitamin E Deficiency/complicationsABSTRACT
Vitamin E and selenium statuses were studied in thalassemic children in comparison with 16 normal controls. Twelve Hb H disease, 46 beta-thal/Hb E and 7 beta-thal major patients had lower plasma vitamin E level than controls but plasma vitamin E/total lipids ratio of Hb H disease subjects was not different from normal. Twelve Hb H disease and 33 beta-thal/Hb E patients had normal RBC Se but increased RBC GSH-Px activity. Ten vitamin E-deficient thalassemic subjects had been supplemented with 200 mg of oral vitamin E for 4-8 weeks. After supplementation, their plasma vitamin E increased and H2O2 hemolysis decreased to normal values. Their RBC GSH-Px activity also decreased but hematocrit did not change significantly. The results demonstrate that some types of thalassemic patients have vitamin E deficiency and support that vitamin E and selenium have related functions in the prevention of RBC oxidation. Vitamin E supplementation increased RBC resistance to oxidative damage.