Mucopolysaccharidosis type I, Hurler syndrome variant : Initial approach and relationship to literature
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Abstract
Background: Mucopolysaccharidoses-type storage diseases are a group of rare genetic diseases with an autosomal recessive inheritance pattern. Mucopolysaccharidosis (MPS) is a condition of lysosomal overload caused by deficiencies of enzymes responsible for the degradation of glycosaminoglycans (GAG), also called mucopolysaccharides. This enzyme deficiency is generated from the progressive accumulation of compounds in different tissues that leads to generalized tissue damage and tends to progress to multiorgan failure (1–5). Case report: Elderly lactating female patient with neurodevelopmental delay and notable phenotypic alterations, which is related to findings described in the literature. Conclusions: alpha-L-Iduronidase enzyme deficiency was identified in the context of a clinical picture with severe manifestations and such an early age of onset of the pathology, it is classified as MPS I, or Hurler Syndrome.Advances in the early approach and knowledge of the natural history of deposit diseases will make it possible to generate a better diagnostic and therapeutic approach, generating a better outcome.
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