Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.
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| "Salla disease is more common in Sweden than supposed." | ( Aula, N; Aula, P; Erikson, A; Månsson, JE, 2002) |
| "Salla disease is rare outside of individuals of Finnish ancestry." | ( Gahl, WA; Huizing, M; Kleta, R; Krasnewich, D; Martin, RA; Natowicz, M; Orvisky, E; Pearlman, K; Slaugh, R, 2003) |
| "Salla disease and infantile sialic acid storage disorder are autosomal recessive neurodegenerative diseases characterized by loss of a lysosomal sialic acid transport activity and the resultant accumulation of free sialic acid in lysosomes." | ( Reimer, RJ; Wlizla, M; Wreden, CC, 2005) |
| "Lysosomal free sialic acid storage diseases are recessively inherited allelic neurodegenerative disorders that include Salla disease (SD) and infantile sialic acid storage disease (ISSD) caused by mutations in the SLC17A5 gene encoding for a lysosomal membrane protein, sialin, transporting sialic acid from lysosomes." | ( Assereto, S; Biancheri, R; Corsolini, F; Filocamo, M; Mancini, GM; Minetti, C; Rossi, A; Schot, R; Verbeek, HA; Verheijen, FW, 2005) |
| "Sialuria is an inborn error of metabolism characterized by coarse face, hepatomegaly and recurrent respiratory tract infections." | ( Abd Hamid, UM; Critchley, A; Dwek, RA; Huijben, KM; Lagerwerf, AJ; Lefeber, DJ; Leroy, JG; Morava, E; Royle, L; Rudd, PM; Wevers, RA; Wilcken, B; Wopereis, S, 2006) |
| "Sialuria is a dominant disorder caused by missense mutations in the allosteric site of GNE, coding for the rate-limiting enzyme of sialic acid biosynthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase." | ( Caplen, NJ; Ciccone, C; Gahl, WA; Huizing, M; Klootwijk, RD; Krasnewich, DM; Manoli, I; Savelkoul, PJ, 2008) |
| "This confirms that sialuria is rare even in a selected group of patients, but does not invalidate the concern that sialuria may be a risk factor for IHCC." | ( Basehore, M; Champaigne, NL; Chaubey, A; Chen, N; Decaestecker, J; Friez, MJ; Goldstein, JL; Hu, H; Huizing, M; Kishnani, PS; Leroy, JG; Li, J; Libbrecht, L; Pollard, L; Steenkiste, E; Stevenson, RE; Van Dorpe, J; Verslype, C; Wood, T, 2016) |
| "Sialuria is a rare inborn error of metabolism characterized by excessive synthesis and urinary excretion of free sialic acid with only minimal clinical morbidity in early childhood, but may be a risk factor for intrahepatic cholangiocarcinoma in adulthood." | ( Basehore, M; Champaigne, NL; Chaubey, A; Chen, N; Decaestecker, J; Friez, MJ; Goldstein, JL; Hu, H; Huizing, M; Kishnani, PS; Leroy, JG; Li, J; Libbrecht, L; Pollard, L; Steenkiste, E; Stevenson, RE; Van Dorpe, J; Verslype, C; Wood, T, 2016) |
| "Sialuria is a rare autosomal dominant disorder of mammalian metabolism, caused by defective feedback inhibition of the UDP-N-acetylglucosamine-2-epimerase N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis." | ( Bennmann, D; Bork, K; Horstkorte, R; Kannicht, C; Kohla, G; Kreuzmann, D; Thate, A, 2017) |
| "Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome." | ( Blomqvist, M; Darin, N; Drögemöller, BI; Kollberg, G; Ross, CJ; Tarailo-Graovac, M; van den Ouweland, AM; van Karnebeek, CD; Wasserman, WW, 2017) |
| "Intermediate-severe Salla disease is the most recently described form." | ( Bernard, G; Chapleau, A; Mirchi, A; Poulin, C; Tran, LT, 2023) |