Lysosomal storage disorders: Molecular basis and laboratory testing

Filocamo, Mirella; Morrone, Amelia

doi:10.1186/1479-7364-5-3-156

Human Genomics

Table 1 Lysosomal storage disorders

From: Lysosomal storage disorders: Molecular basis and laboratory testing

OMIM	Disease	Defective protein	Main storage materials	Preliminary test	Gene symbol	MIM ID	Diagnostic test
Mucopolysaccharidoses (MPSs)
607014 607015 607016	MPS I (Hurler, Scheie, Hurler/Scheie)	α-Iduronidase	Dermatan sulphate, heparan sulphate	GAGs (U)	IDUA	252800	BGT, MGT
309900	MPS II (Hunter)	Iduronate sulphatase	Dermatan sulphate, heparan sulphate	GAGs (U)	IDS	309900	BGT, MGT
252900	MPS III A (Sanfilippo A)	Heparan sulphamidase	Heparan sulphate	GAGs (U)	SGSH	605270	BGT, MGT
252920	MPS III B (Sanfilippo B)	Acetyl α-glucosaminidase	Heparan sulphate	GAGs (U)	NAGLU	609701	BGT, MGT
252930	MPS III C (Sanfilippo C)	Acetyl CoA: α-glucosaminide N-acetyltransferase	Heparan sulphate	GAGs (U)	HGSNAT	610453	BGT, MGT
252940	MPS III D (Sanfilippo D)	N-acetyl glucosamine-6-sulphatase	Heparan sulphate	GAGs (U)	GNS	607664	BGT, MGT
253000	MPS IVA (Morquio A)	Acetyl galactosamine-6-sulphatase	Keratan sulphate, chondroiotin 6-sulphate	GAGs (U)	GALNS	612222	BGT, MGT
253010	MPS IV B (Morquio B)	β-Galactosidase	Keratan sulphate	GAGs (U)	GLB1	611458	BGT, MGT
253200	MPS VI (Maroteaux-Lamy)	Acetyl galactosamine 4-sulphatase (arylsulphatase B)	Dermatan sulphate	GAGs (U)	ARSB	611542	BGT, MGT
253220	MPS VII (Sly)	β-Glucuronidase	Dermatan sulphate, heparan sulphate, chondroiotin 6-sulphate	GAGs (U)	GUSB	611499	BGT, MGT
601492	MPS IX (Natowicz)	Hyaluronidase	Hyluronan	-	HYAL1	607071	BGT, MGT
Sphingolipidoses
301500	Fabry	α-Galactosidase A	Globotriasylceramide	-	GLA	300644	BGT, MGT
228000	Farber	Acid ceramidase	Ceramide	-	ASAH1	613468	BGT, MGT
230500 230600 230650	Gangliosidosis GM1 (Types I, II, III)	GM1-β-galactosidase	GM1 ganglioside, Keratan sulphate, oligos, glycolipids	Oligos (U)	GLB1	611458	BGT, MGT
272800	Gangliosidosis GM2, Tay-Sachs	β-Hexosaminidase A	GM2 ganglioside, oligos, glycolipids	-	HEXA	606869	BGT, MGT
268800	Gangliosidosis GM2, Sandhoff	β-Hexosaminidase A + B	GM2 ganglioside, oligos	-	HEXAB	606873	BGT, MGT
230800 230900 231000	Gaucher (Types I, II, III)	Glucosylceramidase	Glucosylceramide	Chito⁺(S)	GBA	606463	BGT, MGT
245200	Krabbe	β-Galactosylceramidase	Galactosylceramide	-	GALC	606890	BGT, MGT
250100	Metachromatic leucodystrophy	Arylsulphatase A	Sulphatides	Sulphatides (U)	ARSA	607574	BGT, MGT
257200 607616	Niemann-Pick (type A, type B)	Sphingomyelinase	Sphingomyelin	-	SMPD1	607608	BGT, MGT
Olygosaccharidoses (glycoproteinoses)
208400	Aspartylglicosaminuria	Glycosylasparaginase	Aspartylglucosamine	Oligos (U)	AGA	613228	BGT, MGT
230000	Fucosidosis	α-Fucosidase	Glycoproteins, glycolipids, Fucoside-rich oligos	Oligos (U)	FUCA1	612280	BGT, MGT
248500	α-Mannosidosis	α-Mannosidase	Mannose-rich oligos	Oligos (U)	MAN2B1	609458	BGT, MGT
248510	β-Mannosidosis	β-Mannosidase	Man(β1 → 4)GlnNAc	Oligos (U)	MANBA	609489	BGT, MGT
609241	Schindler	N-acetylgalactosaminidase	Sialylated/ asialoglycopeptides, glycolipids	Oligos (U)	NAGA	104170	BGT, MGT
256550	Sialidosis	Neuraminidase	Oligos, glycopeptides	Bound SA (U), Oligos (U)	NEU1	608272	BGT, MGT
Glycogenoses
232300	Glycogenosis II/Pompe	α1,4-glucosidase (acid maltase)	Glycogen	CK (S)	GAA	606800	BGT, MGT
Lipidoses
278000	Wolman/CESD	Acid lipase	Cholesterol esters	-	LIPA	613497	BGT, MGT
Non-enzymatic lysosomal protein defect
272750	Gangliosidosis GM2, activator defect	GM2 activator protein	GM2 ganglioside, oligos	-	GM2A	613109	MGT
249900	Metachromatic leucodystrophy	Saposin B	Sulphatides	Sulphatides (U)	PSAP	176801	MGT
611722	Krabbe	Saposin A	Galactosylceramide	-	PSAP	176801	MGT
610539	Gaucher	Saposin C	Glucosylceramide	-	PSAP	176801	MGT
Transmembrane protein defect
Transporters
269920 604369	Sialic acid storage disease; infantile form (ISSD) and adult form (Salla)	Sialin	Sialic acid	Free SA (U)	SLC17A5	604322	MGT
219800	Cystinosis	Cystinosin	Cystine	-	CTNS	606272	MGT
257220	Niemann-Pick Type C1	Niemann-Pick type 1 (NPC1)	Cholesterol and sphingolipids	Chito⁺(S)	NPC1	607623	Filipin test, MGT
607625	Niemann-Pick, Type C2	Niemann-Pick type 2 (NPC2)	Cholesterol and sphingolipids	Chito⁺(S)	NPC2	601015	Filipin test, MGT
Structural Proteins
300257	Danon	Lysosome-associated membrane protein 2	Cytoplasmatic debris and glycogen	-	LAMP2	309060	MGT
252650	Mucolipidosis IV	Mucolipin	Lipids	-	MCOLN1	605248	MGT
Lysosomal enzyme protection defect
256540	Galactosialidosis	Protective protein cathepsin A (PPCA)	Sialyloligosaccharides	Bound SA (U), Oligos (U)	CTSA	613111	BGT^a, MGT
Post-translational processing defect
272200	Multiple sulphatase deficiency	Multiple sulphatase	Sulphatides, glycolipids, GAGs	Sulphatides (U), GAGs (U)	SUMF1	607939	BGT^b, MGT
Trafficking defect in lysosomal enzymes
252500 252600	Mucolipidosis IIα/β, IIIα/β	GlcNAc-1-P transferase	Oligos, GAGs, lipids	Oligos (U)	GNPTAB	607840	BGT^c, MGT
232605	Mucolipidosis IIIγ	GlcNAc-1-P transferase	Oligos, GAGs, lipids	Oligos (U)	GNPTG	607838	BGT^c, MGT
Polypeptide degradation defect
265800	Pycnodysostosis	Cathepsin K	Bone proteins	X-ray	CTSK	601105	MGT
Neuronal ceroid lipofuscinoses (NCLs)
256730	NCL 1	Palmitoyl protein thioesterase (PPT1)	Saposins A and D	Ultrastructure	PPT1	600722	BGT, MGT
204500	NCL 2	Tripeptidyl peptidase 1 (TPP1)	Subunit c of ATP synthase	Ultrastructure	TPP1	607998	BGT, MGT
204200	NCL 3	CLN3, lysosomal transmembrane protein	Subunit c of ATP synthase	Ultrastructure	CLN3	607042	MGT
256731	NCL 5	CLN5, soluble lysosomal protein	Subunit c of ATP synthase	Ultrastructure	CLN5	608102	MGT
601780	NCL 6	CLN6, transmembrane protein of ER	Subunit c of ATP synthase	Ultrastructure	CLN6	606725	MGT
610951	NCL 7	CLC7, lysosomal chloride channel	Subunit c of ATP synthase	Ultrastructure	MFSD8	611124	MGT
600143	NCL 8	CLN8, transmembrane protein of endoplasmic reticulum	Subunit c of ATP synthase	Ultrastructure	CLN8	607837	MGT
610127	NCL 10	Cathepsin D	Saposins A and D	Ultrastructure	CTSD	116840	MGT

Abbreviations: CK, creatine kinase; CLN, with expansion; GAGs, glysosaminoglycans; GLcNAc-1-P, with expansion; Oligos, oligosaccharides; S, serum; SA, sialic acid; U, urine; Chito, chitotriosidase
^aDefect of β-galactosidase and neuraminidase and/or cathepsin A
^bDecrease in some lysosomal and non-lysosomal sulphatases
^cSome lysosomal hydrolase activities increased in plasma and decreased in cultured fibroblasts
^†Note that 5-7 per cent of the population have a recessively inherited defect in the chitotriosidase gene, which leads to false-negative values [11].

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ISSN: 1479-7364

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