ENFERMEDAD DE LESCH NYHAN PDF

Pascual-Castroviejo, J. Hypoxanthine-guanine phosphoribosyltransferase HPRT deficiency is characterized by an increase in renal uric acid excretion, usually with hyperuricemia and may be associated with more or less important neurological symptoms. Based on a series of 20 patients from 16 Spanish families we propose that HPRT deficiency could be clinically classified in four different groups. In the more severe form classic Lesch-Nyhan syndrome HPRT deficiency is characterized by choreoathetosis, spasticity, mental retardation and compulsive self-mutilation behavior. The pathophysiology of the neurological symptoms remains unclear and there is no effective therapy. This review is intended to provide a research strategy for a better knowledge of the neurological pathophysiology of HPRT deficiency.

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Pascual-Castroviejo, J. Hypoxanthine-guanine phosphoribosyltransferase HPRT deficiency is characterized by an increase in renal uric acid excretion, usually with hyperuricemia and may be associated with more or less important neurological symptoms. Based on a series of 20 patients from 16 Spanish families we propose that HPRT deficiency could be clinically classified in four different groups. In the more severe form classic Lesch-Nyhan syndrome HPRT deficiency is characterized by choreoathetosis, spasticity, mental retardation and compulsive self-mutilation behavior.

The pathophysiology of the neurological symptoms remains unclear and there is no effective therapy. This review is intended to provide a research strategy for a better knowledge of the neurological pathophysiology of HPRT deficiency. We have analyzed the knowledge on the neurological symptoms of HPRT deficiency. This knowledge comes from histopathological studies of the brains from Lesch-Nyhan patients, chemical studies of the cerebrospinal fluid, experimental animal models pharmacologic and lesioning and genetic approaches , and human in vivo studies with positron-emission tomography.

This damage could be due to lost or reorganization of dopaminergic system, and is associated with a reduced dopamine levels and with hypersensitivity of the D1 subclass dopamine receptors [REV NEUROL ; ]. Key words. Hypoxanthine-guanine phosphoribosyltransferase. Como resultado, la hipoxantina no transfor- mada en IMP es catabolizada a xantina por la enzima xantina oxidasa. Hospi- tal La Paz. Facultad de Medicina.

Correspondencia: Dr. Costa Brava, 23, 3. E Madrid. Agradecimientos: A los Dres. Algunas de estas mutaciones han sido ya descritas en la literatura publicada [].

FRONTIERS OF ELECTRONIC COMMERCE KALAKOTA WHINSTON PEARSON PDF

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En los recin nacidos, el nivel de bilirrubina son ms altos durante los primeros das de vida. El proveedor de atencin mdica de su hijo debe considerar lo siguiente al decidir si el nivel de bilirrubina de su beb est demasiado alto: Si el beb naci prematuro La edad del beb La ictericia tambin puede ocurrir cuando se descomponen ms glbulos rojos de lo normal. Esto puede ser causado por: Un trastorno en la sangre llamado eritroblastosis fetal Un trastorno en los glbulos rojos llamado anemia hemoltica Los siguientes problemas con la vescula biliar o las vas biliares pueden causar niveles de bilirrubina ms altos: Estrechamiento anormal del conducto biliar comn estenosis biliar Cncer del pncreas o de la vescula biliar Clculos biliares Aminocidos involucrados en la sntesis de creatinina La creatinina es un compuesto orgnico generado a partir de la degradacin de la creatina que es un nutriente til para los msculos. Es un producto de desecho del metabolismo normal de los msculos que usualmente es producida por el cuerpo en una tasa muy constante dependiendo de la masa de los msculos , y normalmente filtrada por los riones y excretada en la orina. La medicin de la creatinina es la manera ms simple de monitorizar la correcta funcin de los riones.

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Síndrome de Lesch-Nyhan

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