2012, Number 2
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RCAN 2012; 22 (2)
Intervencion dietoterapéutica en la citopatía mitocondrial. A propósito de un caso
Cillero RM, Marcos PLM, Pérez SMB, Serra OA, Plasencia RC, Caballero RM
Language: Spanish
References: 29
Page: 326-339
PDF size: 257.52 Kb.
ABSTRACT
Although rare as medical entities,
mitochondrial diseases affect organism as a
whole, and in particular those organs and
systems characterized for a high energy
demand such as the central nervous system,
retina, heart and skeletal muscle fibers, kidney
and endocrine system. Hence, a mitochondrial
disease is suspected when different organs are
implicated. In the majority of patients
encephalopathy concurs with muscle lesions
demonstrated with biopsy. Mitochondrial
diseases originate from disturbances of
mitochondrial energy metabolism due to
disorders of oxidative phosphorylation. This
work shows the dietotherapeutic intervention
conducted by the authors in a patient affected
with progressive ophtalmoplegia: one in many
of the mitochondrial cytopathies. Patient’s
clinical evolution was marked by difficulties in
achieving an adequate weight for height
(although an appropriate growth pattern was
observed), and a progressive ophtalmoplegia
requiring surgical correction. Provision of
foods with a high antioxidant quality, and
administration of nutrients oriented to
favorably modify the energy activity of the
brain and striate muscle is recommended in
cases like this; as well as regular assessment of
the accretion of leans mass by means of
techniques different from the anthropometric
ones (such as electrical bioimpedance).
Comprehensive treatment of the patient in
order to assure the fulfillment of the prescribed
food, nutrient and metabolic intervention
program is emphasized.
REFERENCES
Martínez Bermejo A, Velázquez R, Roche C. Encefalopatías metabólicas. Protocolos diagnóstico terapéuticos: Neurología pediátrica. AEP Asociación Española de Pediatría. Madrid: 2008. 6 páginas. Disponible en: http://www.aeped.es/sites/default/files/ documentos/22-encefpmetab.pdf. Fecha de última visita: 12 de Noviembre del 2012.
Barrios García B. El diagnóstico de las encefalopatías heredometabólicas en el recién nacido: Una labor multidisciplinaria. Rev Cubana Genet Hum 2000;2(1):1-10. Disponible en: http://biblioteca.unicafam.edu.co:2048/l ogin?url=http://site.ebrary.com/lib/bibli ounicafamsp/Doc?id=10048808. Fecha de última visita: 10 de Noviembre del 2012.
Posada Rodríguez IJ, Gutiérrez-Rivas E, Cabello A. Patología del corazón de origen extracardíaco (III). Repercusión cardíaca de las enfermedades neuromusculares. Rev Esp Cardiol 1997;50:882-901.
Scheffler IE. Mitochondria. Wiley-Liss. New York: 1999.
Nicholls DG, Ferguson SJ. Bioenergetics 3. Academic Press. Amsterdam: 2002.
Walker AC, Smith SD, Smith SD. Mitochondrial DNA and human evolution. Nature 1987; 325:1-5.
DiMauro S, Andreu AL, Bonilla E. Encefalomiopatías mitocondriales: ¿Hacia dónde vamos? Rev Neurol 1999;28:164-8.
Kosmorsky G, Johns DR. Neuroophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy. Neurol Clin 1991;9:147-61.
Tyynismaa H, Carroll CJ, Raimundo N, Ahola-Erkkilä S, Wenz T, Ruhanen H, Guse K, et al. Mitochondrial myopathy induces a starvation-like response. Hum Mol Genet 2010;19:3948-58.
Porrata Maury C, Hernández Triana M, Argüelles Vázquez JM. Recomendaciones nutricionales y guías alimentarias para la población cubana. Editorial Pueblo y Educación. La Habana: 1997.
Urquiaga I, Leighton F. Plant polyphenol antioxidants and oxidative stress. Biological Research 2000;33: 55-64.
Prior RL. Fruits and vegetables in the prevention of cellular oxidative damage. Am J Clin Nutr 2003;78: 570S-578S.
Cheeke PR. Cassava. Manihot esculenta. En: Natural toxicants in feeds, forages and poisonous plants. Disponible en: http://www.ansci.cornell.edu/courses/. Fecha de última visita: 14 de Mayo de 2012.
Zaninovic V. Posible asociación de algunas enfermedades neurológicas con el consumo excesivo de la yuca mal procesada y de otros vegetales neurotóxicos. Colombia Médica 2009; 34:82-91. Disponible en: http://colombiamedica.univalle.edu.co/i ndex.php/comedica/article/view/258/26 1 Fecha de última visita: 15 de Junio del 2012.
Kumar R. Anti-nutritional factors, the potential risks of toxicity and methods to alleviate them. Legume trees and other fodder trees as protein source for livestock. FAO Animal Production and Health Paper 1992;102:145-60.
Preziosi P, Galan P, Herbeth B, Valeix P, Roussel AM, Malva D, Paul- Dauphin A, et al. Effects of supplementation with a combination of antioxidant vitamins and trace elements, at nutritional doses, on biochemical indicators and markers of the antioxidant system in adult subjects. J Am Coll Nutr 1998;17:244-9.
Sohet FM, Delzenne NM. Is there a place for coenzyme Q in the management of metabolic disorders associated with obesity? Nutr Rev 2012;70:631-41.
Cupp MJ, Tracy TS. Capítulo 4: Coenzyme Q10 (Ubiquinone, Ubidecarenone). En: Dietary supplements (Editores: Cupp MJ, Tracy TS). Humana Press. Totowa, New Jersey: 2003. pp 53-85.
Matthews RT, Yang L, Browne S, Baik M, Beal MF. Coenzyme Q10 administration increases brain mitochondrial concentrations and exerts neuroprotective effects. PNAS 1998; 95:8892-7.
Berbel-Garcia, A, Barbera-Farre JR, Etessam JP, Salio AM, Cabello A, Gutierrez-Rivas E, Campos Y. Coenzyme Q 10 improves lactic acidosis, strokelike episodes, and epilepsy in a patient with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes). Clinical Neuropharmacology 2004;27:187-91.
Bresolin N, Bet L, Binda A, Moggio M, Comi G, Nador F, et al. Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10. Neurology 1988; 38:892-99.
Reuter SE, Evans AM. Carnitine and acylcarnitines: pharmacokinetic, pharmacological and clinical aspects. Clin Pharmacokinet 2012;51:553-72.
Virmani A, Gaetani F, Binienda Z. Effects of metabolic modifiers such as carnitines, coenzyme Q10, and PUFAs against different forms of neurotoxic insults: metabolic inhibitors, MPTP, and methamphetamine. Ann N Y Acad Sci 2005;1053:183-91.
Ferrari R, Merli E, Cicchitelli G, Mele D, Fucili A, Ceconi C. Therapeutic effects of L-carnitine and propionyl-Lcarnitine on cardiovascular diseases: a review. Ann N Y Acad Sci 2004; 1033:79-91.
Campos Y, Huertas R, Lorenzo G, Bautista J, Gutiérrez E, Aparicio M, et al. Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy. Muscle Nerve 1993;16:150-3.
Martínez González C, Santana Porbén S. Diseño e implementación de un esquema intrahospitalario de Nutrición enteral. RCAN Rev Cubana Aliment Nutr 2001;15:130-8.
Schiff M, Bénit P, Coulibaly A, Loublier S, El-Khoury R, Rustin P. Mitochondrial response to controlled nutrition in health and disease. Nutr Rev 2011;69:65-75.
Berdasco A, Esquivel M, Gutiérrez JA, Jiménez JA, Mesa D, Posada E, Romero JM, Rubén M, Sastre L, Silva LC, de la Vega R. Segundo Estudio Nacional de Crecimiento y Desarrollo. Cuba, 1982: Valores de peso y talla para la edad. Rev Cubana Pediatr 1991;63:4-21.
Esquivel M. Valores cubanos del Índice de Masa Corporal en niños y adolescentes de 0 a 19 años. Rev Cubana Pediatr 1991;63:181-90.
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