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Table 1 Classification of LSDs (adapted from Platt and Walkley, 2004 [2])

From: Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

Molecular defect

Enzyme deficiency

Disease example

OMIM number

Primary lysosomal hydrolase defect

α-Galactosidase A

Iduronate-sulfatase

Fabry disease

MPS II

301500

309900

Post-translational processing defect of lysosomal enzymes

Multiple sulphatase deficiency

(17 sulphatases)

Multiple sulphatase deficiency

272200

Trafficking defect for lysosomal enzymes

N-acetylglucosamine-1-phosphotransferase

Mucolipidosis type II

252500

Defect in lysosomal enzyme protection

β-Galactosidase and Neuraminidase deficiency

Galactosialidosis

256540

Defect insoluble non-enzymatic lysosomal proteins

Hexosaminidase activator deficiency

GM2 type AB

(Tay-Sachs disease variant AB)

272750

Transmembrane (non-enzyme) protein defect

Lysosomal-associated membrane protein 2

Danon disease

300257

Unclassified

Intracellular accumulation of autofluorescent of lipopigments storage material

Neuronal ceroid lipofuscinoses (CLN4)

204300