SLC17A5 and free sialic acid storage disease, infantile form: Case 59: aberrant splicing was confirmed in a case of Infantile Sialic Acid Storage disease where two rare variants in trans (confirmed by parental studies) were identified in the SLC17A5 gene (NM_012434.4) c.819+1 G > A; c.291 G > A p.(Thr97 = ).