Hurler/Scheie Phenotype

Jensen, O. A.; Pedersen, Carsten; Schwartz, Marianne; Vestermark, S; Warburg, Mette

doi:10.1159/000308739

Cited by 15 publications

(3 citation statements)

References 3 publications

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“…Variable degrees of retinopathy have been reported in MPS I and generally manifest later in life [64][65][66]. GAG deposits within retinal pigment epithelial cells and in the photoreceptor matrix leads to progressive photoreceptor loss, retinal degeneration, and dysfunction [49,63,67].…”

Section: Retinopathymentioning

confidence: 99%

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Hampe

Eisengart

Lund

et al. 2020

Cells

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Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease, caused by deficiency of the enzyme α-L-iduronidase, resulting in accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate in organs and tissues. If untreated, patients with the severe phenotype die within the first decade of life. Early diagnosis is crucial to prevent the development of fatal disease manifestations, prominently cardiac and respiratory disease, as well as cognitive impairment. However, the initial symptoms are nonspecific and impede early diagnosis. This review discusses common phenotypic manifestations in the order in which they develop. Similarities and differences in the three animal models for MPS I are highlighted. Earliest symptoms, which present during the first 6 months of life, include hernias, coarse facial features, recurrent rhinitis and/or upper airway obstructions in the absence of infection, and thoracolumbar kyphosis. During the next 6 months, loss of hearing, corneal clouding, and further musculoskeletal dysplasias develop. Finally, late manifestations including lower airway obstructions and cognitive decline emerge. Cardiac symptoms are common in MPS I and can develop in infancy. The underlying pathogenesis is in the intra- and extracellular accumulation of partially degraded GAGs and infiltration of cells with enlarged lysosomes causing tissue expansion and bone deformities. These interfere with the proper arrangement of collagen fibrils, disrupt nerve fibers, and cause devastating secondary pathophysiological cascades including inflammation, oxidative stress, and other disruptions to intracellular and extracellular homeostasis. A greater understanding of the natural history of MPS I will allow early diagnosis and timely management of the disease facilitating better treatment outcomes.

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Section: Retinopathymentioning

confidence: 99%

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Hampe

Eisengart

Lund

et al. 2020

Cells

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“…Symptoms are commonly observed between three and eight years of age, and survival to adulthood is common. Cardiac involvement and upper airway obstruction contribute to clinical mortality [3,[7][8][9][10].…”

Section: Case Reportmentioning

confidence: 99%

“…Morquio syndrome cannot be considered in the differential diagnosis of the girl with mucopolysaccharidosis with hepatosplenomegaly and significant coarsening of facial features. Scheie and Hurler-Scheie syndromes can occur in girls without significant mental retardation but they are not associated with early onset and are generally not diagnosed before the age of two years [3][4][5][6][7][8][9][10].…”

Section: Case Reportmentioning

confidence: 99%

Clinical and Radiologic Diagnosis of a Patient with Maroteaux-Lamy Syndrome

Al-Mosawi¹

2020

Series Med Sci.

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Background: Diagnosis of rare diseases or disorders is understandably challenging because it is unfeasible for practicing physicians to make themselves familiar with hundreds of rare diseases. The diagnosis of rare inherited metabolic syndromes such as mucopolysaccharidoses is additionally complicated by the lack of confirmatory sophisticated laboratory tests in many areas of the world. In the more developed countries, the diagnosis of mucopolysaccharidoses depends on urine tests for excessive mucopolysaccharides and enzyme assays. However, these tests are not easily accessible in countries like Iraq, and the diagnosis has to rely on clinical and radiological findings. Case Report: The clinical and radiologic diagnosis of an Iraqi patient with Maroteaux-Lamy syndrome is described. The clinical diagnosis of the girl with early-onset mucopolysaccharidosis and the abnormalities were recognizable before the age of two. The clinical and radiologic diagnosis was Maroteaux-Lamy syndrome because of the absence of mental retardation and the presence of hepatosplenomegaly. Conclusion: Clinical diagnosis of rare metabolic syndromes like mucopolysaccharidoses requires magnificent clinical skills and huge experience because of the similarity between various types of mucopolysaccharidoses.

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The clinical spectrum of α‐L‐iduronidase deficiency

et al. 1985

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We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.

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Hurler/Scheie Phenotype

Cited by 15 publications

References 3 publications

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Clinical and Radiologic Diagnosis of a Patient with Maroteaux-Lamy Syndrome

The clinical spectrum of α‐L‐iduronidase deficiency

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