sphingolipidosis

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sphingolipidosis

[¦sfiŋ·gō‚lip·ə′dō·səs]
(medicine)
Any of a group of hereditary metabolic disorders characterized by excessive accumulations of certain glycolipids and phospholipids in various tissues of the body.
References in periodicals archive ?
Lysosomal storage Gaucher's disease, disorders Niemann-Pick disease Disorders of lipid Fatty acid Oxidation metabolism Defects, Sphingolipidoses Mitochondrial Kearns-Sayre syndrome disorders Peroxisomal Zellweger syndrome, disorders Adreno leucodystrophy Trace metal Menke's Kinky Hair disorders syndrome, Wilson's disease Chart 1: Provisional diagnosis No diagnosis 1 Hypothyroidism 2 Wilsons disease 1 Pyrexia for evaluation 1 Inborn errors of metabolism 14 Hepatomegaly for evaluation 7 Hematological Malignancy 1 Hemolytic anemia 6 Note: Table made from bar graph.
Winchester syndrome (OMIM 277950), systemic fibromatosis (OMIM 228550), stiff skin syndrome (OMIM 184900), lipoid proteinosis (OMIM 247100), and storage diseases including mucopolysacharoses, sphingolipidoses and mucilipidoses [Osterby et al., 2002; Zolkpi et al., 2003; Lim et al., 2005; Yayli et al., 2006; Al-Mayouf 2007; ,Al-Malik et al., 2007; Shieh et al., 2008; Al-Mubarak et al., 2009].