También se conoce como síndrome de Hurler, en honor a la Dra. Gertrude Hurler, médica interna, quien en 1919 describió por primera vez a un niño y una niña con síntomas graves de la afección. En 1962, el Dr. Harold Scheie, oftalmólogo, describió a personas que mostraban síntomas atenuados (menos graves) y se veían afectadas
Orphanet: Síndrome de Hurler
El síndrome de Hurler es la forma más grave de mucopolisacaridosis tipo 1 (MPS1; ver término), una enfermedad rara de depósito lisosomal caracterizada por anomalías esqueléticas, deterioro cognitivo, enfermedad cardíaca, problemas respiratorios, hígado y bazo agrandados, rasgos faciales característicos y esperanza de vida reducida.
Mucopolysaccharidosis Type I: Hurler Syndrome - Symptoms
Hurler syndrome is the most severe form of mucopolysaccharidosis type I, a hereditary lysosomal storage condition. Cells can't break down sugar molecules, which affects how they function. Symptoms are life-threatening, target your bones and organs, and could cause issues with cognitive development. Treatment increases life expectancy.
Hurler syndrome - Wikipedia
Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes.
Mucopolisacaridosis tipo I: MedlinePlus enciclopedia médica
La mucopolisacaridosis tipo I (MPS I) es una rara enfermedad en la cual el cuerpo carece o no tiene suficiente cantidad de una enzima necesaria para descomponer cadenas largas de moléculas de azúcar. Estas cadenas son llamadas glucosaminoglucanos (anteriormente denominados mucopolisacáridos).
Orphanet: Hurler syndrome
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver …
Hurler Syndrome - StatPearls - NCBI Bookshelf
2023年7月10日 · Hurler syndrome was formerly known as gargoylism. It is an inherited lysosomal disorder caused by the absence of alpha-L-iduronidase, an enzyme responsible for the degradation of glycosaminoglycans (GAGs or mucopolysaccharides).
Mucopolysaccharidosis Type I - GeneReviews® - NCBI Bookshelf
2002年10月31日 · While affected individuals have traditionally been classified as having one of three MPS I syndromes – Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome – no biochemical differences have been identified and the clinical findings overlap; thus, affected individuals are best described as having either severe (Hurler syndrome) or ...
Hurler syndrome - National Organization for Rare Disorders
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, …
Orphanet: Síndrome de Hurler
A síndrome de Hurler é a forma mais grave de mucopolissacaridose tipo 1 (MPS1; ver este termo), uma doença de armazenamento lisossomal, rara, caracterizada por anomalias esqueléticas, doença cardíaca, disfunção respiratória, aumento do baço e fígado, facies característica e redução da esperança média de vida.