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| Storage materials | Diseases | Primary defect |
|
| Lipids | Niemann Pick C | Intracellular cholesterol transport |
| Monosaccharides | Free sialic acid storage disease | Lysosomal transport protein sialin |
| | (i) infantile free sialic acid storage disease (ISSD) | |
| | (ii) intermediate salla disease | |
| | (iii) mild form (salla disease) | |
| Mucolipidoses | Mucolipidosese | |
| | (i) type II (I cell disease) | N-acetylglucosamine-1-phosphotransferase |
| | (ii) type III (pseudo Hurler polydystrophy) | N-acetylglucosamine-1-phosphotransferase |
| | (iii) type IV | Receptor-stimulated cat ion channel (mucolipidin) |
| Mucopolysaccharidoses (MPS) | MPS | |
|
Dermatan, heparan sulfate | (i) type IH (Hurler) | L-iduronidase |
|
Dermatan, heparan sulfate | (ii) type II (Hunter) | Iduronate-sulfatase |
| Heparan sulfate | (i) type III A (Sanfilippo type A) | Heparan-N-sulfatase |
| | (ii) type III B (Sanfilippo type B) | N-acetyl-α-glucosaminidase |
| | (iii) type III C (Sanfilippo type C) | α-glucosaminide-acetyl-CoA transferase |
| | (iv) type III D (Sanfilippo type D) | N-acetylglucosamine-6-sulfatase |
| Dermatan, heparan, chondroitin sulphate | (i) type VII (Sly) | β-Glucuronidase |
| Multiple enzyme defects | Multiple sulfatase deficiency | Sulfatase-modifying factor-1 (SUMF1) |
| | Galactosialidosis | β-Galactosidase and neuraminidase secondary to defect of protective protein, cathepsin A |
Neuronal ceroid lipofuscinosis
(NCL) | NCL | |
| | (i) congenital | Cathepsin D (CTSD) |
| | (ii) infantile (INCL) | Palmitoyl-protein thioesterase-1 (PPT1) |
| | (iii) late infantile (LNCL) | Tripeptidyl peptidase 1 (TPP1) |
| | (iv) juvenile (JNCL) | A transmembrane protein |
| | (v) adult (ANCL) | Ceroid lipofuscinosis neuronal protein 3 (CNT3) |
| | (vi) Northern epilepsy (NE) | Ceroid lipofuscinosis neuronal protein 8 (CLN8) |
| Oligosaccharidoses (glycoproteinoses) | | |
| | Alpha-mannosidosis | α-Mannosidase |
| | Beta-mannosidosis | β-Mannosidase |
| | Fucosidosis | α-Fucosidase |
| | Schindler disease | α-N-acetylgalactosaminidase |
| | Aspartylglucosaminuria (AGU) | Aspartylglucosaminidase |
| | Sialidosis | |
| | (i) severe infantile | α-Neuraminidase |
| | (ii) mild infantile (mucolipidosis I) | α-Neuraminidase |
| | (iii) adult | α-Neuraminidase |
| Sphingolipidoses | | |
| Ceramide | Farber disease | Ceramidase |
| Galactocerebroside | Globoid Cell Leukodystrophy (GLD or Krabbe disease) | β-Galactocerebrosidase |
| | (i) infantile | |
| | (ii) late infantile | |
| | (iii) adult | |
| | (iv) Saposin A deficiency | Sphingolipid activator protein A (SAPA) |
| Gangliosidoses | GM1 gangliosidoses | β-Galactosidase |
| | (i) infantile | |
| | (ii) late infantile | |
| | (iii) adult | |
| | GM2 gangliosidoses | β-Hexosaminidase |
| | (i) Sandhoff disease | β-Hexosaminidase A and B (α-subunit) |
| | (ii) Tay Sachs | β-Hexosaminidase A (β-subunit) |
| | (iii) GM2 activator deficiency | β-Hexosaminidase activator |
| Glucocerebroside | Gaucher disease | β-Glucocerebrosidase |
| | (i) type II | |
| | (ii) type III | |
| | (iii) Saposin C deficiency | Sphingolipid activator protein C |
| Sphingomyelin | Niemann-Pick | Sphingomyelinase |
| | (i) type A | |
| | (ii) type B | |
| Sulfatide | Metachromatic leukodystrophy (MLD) | Arylsulfatase A |
| | (i) late infantile | |
| | (ii) juvenile | |
| | (iii) adult | |
| | (iv) Saposin B deficiency | Sphingolipid activator protein B |
| Multiple sphingolipids | Prosaposin deficiency (pSap) | Precursor of Sphingolipid activator protein |
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