... Table 172-3: Animal Models of Mucopolysaccharidoses MPS Species Reference Mutation Reference MPS I Canine 378 IVSI+IG > A 394 Feline 379 Not yet available — Murine * 401...
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... Table 172-2: Incidence of the Mucopolysaccharidoses Incidence per live births MPS Geographic area Total Male Reference MPS IH British Columbia 1/144,000 245 Northern Ireland 1/76,000 246...
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... Table 172-1: Classification of the Mucopolysaccharidoses Number Eponym MIM number Chromosome locus Major clinical manifestations Enzyme deficiency Glycosaminoglycan affected MPS IH Hurler 252800 4p16.3 Corneal...
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... Table 172-1: Classification of the Mucopolysaccharidoses Number Eponym MIM number Chromosome locus Major clinical manifestations Enzyme deficiency Glycosaminoglycan affected MPS IH Hurler 252800 4p16.3 Corneal...
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... Deficiencies in specific sulfohydrolases responsible for the lysosomal degradation of sulfated proteoglycans and lipids result in lysosomal storage disorders classified under the mucopolysaccharidoses (see The Mucopolysaccharidoses ) or leukodystrophies (see Metachromatic Leukodystrophy...
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... biopsy of bulbar conjunctiva revealed intracytoplasmic vacuoles limited by single-unit membranes containing fine fibrinogranular material typically seen in mucopolysaccharidoses. ...
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... Cancer Insertions Null Hemophilia A/LINE repeat The Mucopolysaccharidoses Duplications Null, gene disrupted Duchenne dystrophy Antithrombin Deficiency Dosage, gene intact Charcot-Marie-Tooth Genetically Determined Disorders of the Complement...
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... with those of mucopolysaccharidoses and ichthyosis. Saposin B deficiency and multiple sulfatase deficiency share with MLD elevated spinal fluid protein levels, slowed nerve conduction velocity, and increased urinary excretion of sulfatides. ...
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... proves that hexosaminidase is essential for the degradation of GAGs ( The Mucopolysaccharidoses ) and that there is redundancy among the hexosaminidase isozymes for this function. The lack of a strong mucopolysaccharidosis phenotype in the Sandhoff disease model suggests that Hex S, the only...
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... The NCLs are relative latecomers to the arena of lysosomal storage diseases, because the underlying lysosomal enzyme defects have only recently been identified. In contrast to previously known lysosomal storage diseases (the gangliosidoses and mucopolysaccharidoses, for instance), the nature...
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... within swollen lysosomes ( Defects of Electron Transfer Flavoprotein and Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase: Glutaric Acidemia Type II to Genetic Disorders Affecting Plasma High-Density Lipoproteins ). Examples of such lysosomal diseases include the mucopolysaccharidoses...
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... classified under the mucopolysaccharidoses or leukodystrophies (see The Mucopolysaccharidoses and Metachromatic Leukodystrophy ). Genetic defects in the transmembrane transport or the metabolic activation of sulfate affect the synthesis rather than the degradation of proteoglycans and have been associated...
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... breathing problems, poor head control, and inability to walk. His father described him as a happy child who didn't complain and was a joy to be around. Radiologic changes seen in Hurler syndrome typify the constellation of skeletal abnormalities in mucopolysaccharidoses known as dysostosis multiplex...
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... mucopolysaccharidoses, multiple sulfatase deficiency, α -mannosidosis, β -mannosidosis, fucosidosis, aspartylglucosaminuria, I-cell disease, sialidosis, galactosialidosis, and other related diseases. Macular cherry-red spots, if present, are important for consideration of lysosomal storage diseases. Several...
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... reviewed in references 3,6,355 , and 356 ). Identification of urinary glycosaminoglycans can help to discriminate between broad classes of mucopolysaccharidoses but not to distinguish between subgroups. Spot tests are quick, inexpensive, and useful for preliminary evaluation, but are subject to both...
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...” bodies. These are often found in neurons of patients with mucopolysaccharidoses or gangliosidoses and are considered an ultrastructural expression of stored gangliosides. This is consistent with the increased ganglioside level of some Farber disease tissues, as has been demonstrated biochemically 9...
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... with those of mucopolysaccharidoses and ichthyosis. Saposin B deficiency and multiple sulfatase deficiency share with MLD elevated spinal fluid protein levels, slowed nerve conduction velocity, and increased urinary excretion of sulfatides. Metachromatic leukodystrophy is usually divided according...
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... Since multiple sulfatase deficiency was first described by Austin et al. 20 in 1965, more than 50 patients have been reported. 25,39,40 The disease, also called mucosulfatidosis or Austin disease, combines the features of MLD and several mucopolysaccharidoses. A neonatal, an early...
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