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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).
Autosomal recessive inheritance (Orphanet)
 
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

Lysosomal storage diseases.
Burlina AP, Manara R, Gueraldi D
Handb Clin Neurol 2024;204:147-172. doi: 10.1016/B978-0-323-99209-1.00008-9. PMID: 39322377
Free sialic acid storage disorder: Progress and promise.
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
Inherited disorders of lysosomal membrane transporters.
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
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.
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
Hydrops fetalis: lysosomal storage disorders in extremis.
Stone DL, Sidransky E
Adv Pediatr 1999;46:409-40. PMID: 10645471

Diagnosis

Free sialic acid storage disorder: Progress and promise.
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
Inherited disorders of lysosomal membrane transporters.
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
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.
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
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
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
Hydrops fetalis: lysosomal storage disorders in extremis.
Stone DL, Sidransky E
Adv Pediatr 1999;46:409-40. PMID: 10645471

Therapy

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.
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

Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
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
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.
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
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
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
Hydrops fetalis: lysosomal storage disorders in extremis.
Stone DL, Sidransky E
Adv Pediatr 1999;46:409-40. PMID: 10645471
Urinary sialic acid screening in neurologic disorders.
Carroll JE, Roesel RA, DuRant RH, Nelson AM, Hartlage PL, Hahn DA, Hommes FA
Pediatr Neurol 1986 Mar-Apr;2(2):67-71. doi: 10.1016/0887-8994(86)90059-7. PMID: 3508681

Clinical prediction guides

Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
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
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.
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
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
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
Infantile sialic acid storage disease: biochemical studies.
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
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.
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

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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