Mucopolysaccharidosis type VII (MPS VII, Sly disease) |
Mucopolysaccharidosis type IVA (MPS IVA, Morquio type A) |
Mucolipidosis I (sialidosis) |
Mucolipidosis II (I-cell disease) |
Gaucher disease |
Niemann-Pick C |
Farber disease |
GM1 gangliosidosis |
Sialic acid storage disease |
Primary carnitine deficiency |
Fumarase deficiency |
Respiratory chain disorders |
Congenital disorders of glycosylation |
Neonatal haemochromatosis |
Zellweger |
Glycogen storage disease type IV (GSD IV) |
Deficiencies of red cell glycolytic/pentose phosphate pathway enzymes (eg, G6PDH deficiency, pyruvate kinase deficiency) |
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