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. 2020 Sep 19;21(18):6881. doi: 10.3390/ijms21186881

Table 2.

Disorders of glycosphingolipid biosynthesis.

Name of Disease Gene Enzyme Affected GSL MIM Phenotype No.
Spastic Paraplegia (Type 26) B4GALNT1 β1,4GalNAc-transferase GM2, GM1, etc. 609195
West Syndrome ST3GAL III α2,3Sialyltransferase 3 GM1, GD1a, etc. 615006,
611090
Amish Infantile Epilepsy ST3GAL V α2,3Sialyltransferase 9
(GM3 synthase)
LacCer 609056