From Wikipedia, the free encyclopedia
Multiple sulfatase deficiency or Austin's disease is a human genetic disorder caused by a deficiency in multiple sulfatase enzymes. It is similar to mucopolysaccharidosis.[1] This disease is fatal, with the early symptoms being nerve damage and severe mental retardation.[2] The first symptoms appear soon after birth, with affected children having unusual facial features, developmental delays and an enlarged liver (hepatomegaly).[3]
[edit] References
- ^ Soong BW, Casamassima AC, Fink JK, Constantopoulos G, Horwitz AL (1988). "Multiple sulfatase deficiency". Neurology 38 (8): 1273-5. PMID 2899861.
- ^ Farooqui AA, Horrocks LA (1984). "Biochemical aspects of globoid and metachromatic leukodystrophies". Neurochem Pathol 2 (3): 189-218. PMID 6152665.
- ^ Burk RD, Valle D, Thomas GH, et al (1984). "Early manifestations of multiple sulfatase deficiency". J. Pediatr. 104 (4): 574-8. PMID 6142938.
[edit] External links
Multiple sulfatase deficiency OMIM
Inborn error of carbohydrate metabolism (including glycogen storage diseases) (E73-74, 271) |
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Disaccharide catabolism |
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Monosaccharide catabolism |
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Monosaccharide transport |
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Glycolysis |
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Pyruvate catabolism |
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Gluconeogenesis |
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Glycogenesis |
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Glycogenolysis |
GSD type II, Pompe's, glucosidase - GSD type III, Cori's, debranching - GSD type V, McArdle, glycogen phosphorylase/ GSD type VI, Hers', glycogen phosphorylase - GSD type I, von Gierke, glucose 6-phosphatas
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Pentose phosphate pathway |
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Other |
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