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].