Table 11: Lysosomal storage disorders.

Storage materialsDiseasesPrimary defect

LipidsNiemann Pick CIntracellular cholesterol transport
MonosaccharidesFree 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)
MucolipidosesMucolipidosese
(i) type II (I cell disease)N-acetylglucosamine-1-phosphotransferase
(ii) type III (pseudo Hurler polydystrophy)N-acetylglucosamine-1-phosphotransferase
(iii) type IVReceptor-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 defectsMultiple sulfatase deficiencySulfatase-modifying factor-1 (SUMF1)
Galactosialidosis β-Galactosidase and neuraminidase secondary to defect of protective protein, cathepsin A
Neuronal ceroid lipofuscinosis
(NCL)
NCL
(i) congenitalCathepsin 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-mannosidosisα-Mannosidase
Beta-mannosidosisβ-Mannosidase
Fucosidosisα-Fucosidase
Schindler diseaseα-N-acetylgalactosaminidase
Aspartylglucosaminuria (AGU)Aspartylglucosaminidase
Sialidosis
(i) severe infantileα-Neuraminidase
(ii) mild infantile (mucolipidosis I)α-Neuraminidase
(iii) adultα-Neuraminidase
Sphingolipidoses
CeramideFarber diseaseCeramidase
GalactocerebrosideGloboid Cell Leukodystrophy (GLD or Krabbe disease) β-Galactocerebrosidase
(i) infantile
(ii) late infantile
(iii) adult
(iv) Saposin A deficiencySphingolipid activator protein A (SAPA)
GangliosidosesGM1 gangliosidoses β-Galactosidase
(i) infantile
(ii) late infantile
(iii) adult
GM2 gangliosidoses β-Hexosaminidase
(i) Sandhoff diseaseβ-Hexosaminidase A and B (α-subunit)
(ii) Tay Sachsβ-Hexosaminidase A (β-subunit)
(iii) GM2 activator deficiency β-Hexosaminidase activator
GlucocerebrosideGaucher disease β-Glucocerebrosidase
(i) type II
(ii) type III
(iii) Saposin C deficiencySphingolipid activator protein C
SphingomyelinNiemann-Pick Sphingomyelinase
(i) type A
(ii) type B
SulfatideMetachromatic leukodystrophy (MLD) Arylsulfatase A
(i) late infantile
(ii) juvenile
(iii) adult
(iv) Saposin B deficiencySphingolipid activator protein B
Multiple sphingolipidsProsaposin deficiency (pSap) Precursor of Sphingolipid activator protein

Adapted from Pearl [2].