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Free sialic acid storage disease

MedGen UID:
419512
Concept ID:
C2931872
Disease or Syndrome
Synonym: N-acetylneuraminic acid (NANA) storage disease (NSD)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: SLC17A5, GNE
 
Monarch Initiative: MONDO:0019366
Orphanet: ORPHA834

Definition

Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Free sialic acid storage disease in Orphanet.

Recent clinical studies

Etiology

Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium
Neurosci Lett 2021 Jun 11;755:135896. Epub 2021 Apr 20 doi: 10.1016/j.neulet.2021.135896. PMID: 33862140Free PMC Article
Huizing M, Gahl WA
Biochim Biophys Acta Biomembr 2020 Dec 1;1862(12):183336. Epub 2020 May 8 doi: 10.1016/j.bbamem.2020.183336. PMID: 32389669Free PMC Article
Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M
Genet Med 2019 Feb;21(2):347-352. Epub 2018 Jun 6 doi: 10.1038/s41436-018-0051-3. PMID: 29875421
Salomäki P, Aula N, Juvonen V, Renlund M, Aula P
Prenat Diagn 2001 May;21(5):354-8. doi: 10.1002/pd.68. PMID: 11360275
Stone DL, Sidransky E
Adv Pediatr 1999;46:409-40. PMID: 10645471

Diagnosis

Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium
Neurosci Lett 2021 Jun 11;755:135896. Epub 2021 Apr 20 doi: 10.1016/j.neulet.2021.135896. PMID: 33862140Free PMC Article
Huizing M, Gahl WA
Biochim Biophys Acta Biomembr 2020 Dec 1;1862(12):183336. Epub 2020 May 8 doi: 10.1016/j.bbamem.2020.183336. PMID: 32389669Free PMC Article
Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R
Ann Neurol 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624. PMID: 19557856Free PMC Article
Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA
Mol Genet Metab 2004 Jun;82(2):137-43. doi: 10.1016/j.ymgme.2004.03.001. PMID: 15172001
Lemyre E, Russo P, Melançon SB, Gagné R, Potier M, Lambert M
Am J Med Genet 1999 Feb 19;82(5):385-91. PMID: 10069709

Therapy

Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P
Am J Hum Genet 1994 Jun;54(6):1042-9. PMID: 8198127Free PMC Article

Prognosis

Chapleau A, Mirchi A, Tran LT, Poulin C, Bernard G
Pediatr Neurol 2023 Nov;148:133-137. Epub 2023 Aug 19 doi: 10.1016/j.pediatrneurol.2023.08.013. PMID: 37713976
Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M
Genet Med 2019 Feb;21(2):347-352. Epub 2018 Jun 6 doi: 10.1038/s41436-018-0051-3. PMID: 29875421
Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk OS
Mol Genet Metab 2004 Jun;82(2):167-72. doi: 10.1016/j.ymgme.2004.03.005. PMID: 15172005
Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA
Am J Med Genet A 2003 Jul 1;120A(1):28-33. doi: 10.1002/ajmg.a.20024. PMID: 12794688
Stone DL, Sidransky E
Adv Pediatr 1999;46:409-40. PMID: 10645471

Clinical prediction guides

Chapleau A, Mirchi A, Tran LT, Poulin C, Bernard G
Pediatr Neurol 2023 Nov;148:133-137. Epub 2023 Aug 19 doi: 10.1016/j.pediatrneurol.2023.08.013. PMID: 37713976
Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M
Genet Med 2019 Feb;21(2):347-352. Epub 2018 Jun 6 doi: 10.1038/s41436-018-0051-3. PMID: 29875421
Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA
Am J Med Genet A 2003 Jul 1;120A(1):28-33. doi: 10.1002/ajmg.a.20024. PMID: 12794688
Berra B, Gornati R, Rapelli S, Gatti R, Mancini GM, Ciana G, Bembi B
Am J Med Genet 1995 Jul 31;58(1):24-31. doi: 10.1002/ajmg.1320580107. PMID: 7573152
Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P
Am J Hum Genet 1994 Jun;54(6):1042-9. PMID: 8198127Free PMC Article

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