Table 3.

Other Genes of Interest in the Differential Diagnosis of Free Sialic Acid Storage Disorders (FSASDs)

Clinical Finding(s) Overlapping w/FSASDsGeneDisorderAssociated Enzyme
Coarse facial features & developmental delays AGA Aspartylglucosaminuria N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
ARSB MPS VI (OMIM 253200)Arylsulfastase B
FUCA1 Fucosidosis (OMIM 230000)Tissue alpha-L-fucosidase
GLB1 GM1 gangliosidosis (See GLB1-Related Disorders.)Beta-galactosidase
GNPTAB Mucolipidosis II (I-cell disease) (See GNPTAB-Related Disorders.)N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
IDS MPS II Iduronate 2-sulfatase
IDUA MPS I Alpha-L-iduronidase
MAN2B1 Alpha-mannosidosis Lysosomal alpha-mannosidase
NEU1 Sialidosis type II (OMIM 256550)Sialidase-1
Nonimmune hydrops fetalis CTSA Galactosialidosis (OMIM 256540)Lysosomal protective protein
GALC Krabbe disease Galactocerebrosidase
GBA1 (GBA) Gaucher disease Lysosomal acid glucosylceramidase
GBA2 Beta-glucosidase deficiency (OMIM 614409)Non-lysosomal glucosylceramidase
GNPTAB I-cell disease (Mucolipidosis II)N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
GUSB MPS VII Beta-glucuronidase
IDUA MPS I Alpha-L-iduronidase
LIPA Lysosomal acid lipase deficiency Lysosomal acid lipase/cholesteryl ester hydrolase
NEU1 Sialidase deficiency (OMIM 256550)Sialidase-1
SMPD1 Acid sphingomyelinase deficiency Sphingomyelin phosphodiesterase

From Saudubray & Charpentier, Chapter 86, Table 42, Online Metabolic and Molecular Bases of Inherited Disease. Accessed 8-23-22 (Registration required).

MPS = mucopolysaccharidosis

From: Free Sialic Acid Storage Disorders

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