sulfatidosis

sulfatidosis
A combination of metachromatic leukodystrophy and mucopolysaccharidosis caused by deficiency of sulfatase enzymes such as arylsulfatases A, B, and C, and steroid sulfatases; characterized by coarse facial features, ichthyosis, hepatosplenomegaly, and skeletal abnormalities, with increased urinary excretion of dermatan and heparan sulfate s; autosomal recessive inheritance. SEE ALSO: metachromatic leukodystrophy.

Medical dictionary. 2011.

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  • Sulfatidosis — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D052516 Sulfatidosis is a form of lysosomal storage disease resulting in an proliferation of… …   Wikipedia

  • List of diseases (S) — A list of diseases in the English wikipedia.DiseasesTOC NOTOC Sa Sc Se Sh Si Sj Sn So Sp Sq Ss St Su Sw Sy aSaa Sak Sal Sar Sat Say aa Sal* Saal Bulas syndrome * Saal Greenstein syndrome * Sabinas brittle hair syndrome * Saccharopinuria * Sackey… …   Wikipedia

  • Sulfatide — Sulfatides (or sulfolipids) are a class of sulfated galactosylceramides synthesized primarily in the oligodendrocytes in the central nervous system. Clinical significanceAlterations in sulfatide metabolism, trafficking, and homeostasis are… …   Wikipedia

  • síndrome de AUSTIN — sulfatidosis juvenil. Un síndrome que combina las características de la leucodistrofia metacromática con mucopolisacaridosis, debida a una múltiple deficiencia de sulfatasas. Los síntomas mas importantes son ictiosis, disostosis múltiples,… …   Diccionario médico

  • Coarse facial features — refer to a similar change in facial features in the advanced stage of certain conditions like Cretinism, Mucopolysaccharidoses etc, where affected individuals look remarkably similar due to the coarsening of their facial features. These typical… …   Wikipedia

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