Sindrome De Hunter

Páginas: 10 (2308 palabras) Publicado: 20 de enero de 2013
Hunter syndrome (mucopolysaccharidosis type II)

Erik Villacreses Díaz and Alejandra Blacio Peñaranda

Abstract
Mucopolysaccharidosis type II, or Hunter syndrome is a X-linked lysosomal storage disease. It presents an Accumulation of glycosaminoglycans (GAGs), heparan sulfate and dermatan specifically sulphate, in Various Tissues body due to the failure of the enzyme or Absenceiduronate-2-sulfatase. Accumulation of GAGs This Affects the bone tissue, altering the physical appearance. At the Same time it Affects the respiratory, cardiovascular, nervous and endocrine systems. The main features of This disease are the limitation of movement, mental retardation, hepatosplenomegaly, pronounced facial features and progressive loss of vision and hearing.

Keywords: Mucopolysaccharidosistype II, glycosaminoglycans, iduronate-2-sulfatase, mental retardation, hepatosplenomegaly

Resumen
La mucopolisacaridosis tipo II, o Síndrome de Hunter, es una enfermedad de depósito lisosomal ligada al cromosoma X. Se produce una acumulación de glicoaminoglicanos (GAG), específicamente el heparán sulfato y dermatán sulfato, en distintos tejidos del cuerpo debido a la falla o ausencia de laenzima iduronata-2-sulfatasa. Esta acumulación de GAG afecta al tejido óseo, alterando la apariencia física. A la vez deteriora los sistemas respiratorio, cardiovascular, nervioso y endócrino. Las principales características de esta enfermedad son la limitación de movimiento, retraso mental, hepatoesplenomegalia, rasgos faciales pronunciados y pérdida progresiva de la visión y audición.Palabras clave: mucopolisacaridosis tipo II, glicoaminoglicanos, iduronata-2-sulfatasa, retraso mental, hepatoesplenomegalia

Our body cells have organelles such as lysosomes, whose function is to break down waste products and reabsorb those that are still useful for our body. Lysosomes use different enzymes to perform their function at the cellular level, if they do not work properly substancesaccumulate, producing a lysosomal storage disease.

The mucopolysaccharidosis (Type I, II, III, IV, V, VI, VII) are a group of genetic and lysosomal storage diseases in which the enzyme necessary to break down complex molecules such as glycosaminoglycans (GAGs) are not produced or are not fully functional (MedicineNet, 2011)

The GAG ​​are macromolecules made up of long chains of sugars that arefound in cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. The enzyme iduronate-2-sulfatase required for the metabolism of GAGs present in type II mucopolysaccharidosis is defective or not synthesized, producing an excess of GAGs. This causes progressive damage at the cellular level that affects appearance, physical abilities and mental development (Gajaula,Ramaligam, & Bhadrashetty, 2012). The GAGs ​​that are affected and that accumulate in mucopolysaccharidosis type II are the heparan sulfate and dermatan sulfate (Rathmann, Bunge, Beck, Kresse, Gal, & Tylki-Szymanska, 1996).

Mucopolysaccharidosis type II or Hunter syndrome, unlike other types of mucopolysaccharidosis (which are autosomal recessive) is a genetic disease X-linked The X chromosomeis one of the two chromosomes that determine sex of a person; the combination is XX in females, whereas males are XY combination. Because men have only one X chromosome the possibilities of developing the disease increases dramatically as it only requires that one chromosome is affected. In the case of women finding this condition is quite rare, since it is necessary that both X chromosomes beaffected. If she has an affected X chromosome, it is said that she carries the disease and can transmit it to their children but she does not manifest it.

Hunter syndrome can vary in progression and expression, depending on the amount of GAGs accumulated in the tissues, the disease can be mild or severe. Both forms have the same phenotypic characteristics but in its severe form it is three...
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