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Sanfilippo syndrome

MedGen UID:
6452
•Concept ID:
C0026706
•
Disease or Syndrome
Synonyms: Mucopoly-saccharidosis type 3; Mucopolysaccharidosis type 3; Mucopolysaccharidosis type III; Sanfilippo disease
SNOMED CT: Sanfilippo disease (88393000); Mucopolysaccharidosis type III (88393000); Sanfilippo syndrome (88393000); Mucopolysaccharidosis, MPS-III (88393000)
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: HGSNAT, SGSH, NAGLU, GNS
 
Monarch Initiative: MONDO:0018937
Orphanet: ORPHA581

Definition

Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration. [from ORDO]

Professional guidelines

PubMed

Sanfilippo syndrome: consensus guidelines for clinical care.
Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C; MPS III Guideline Development Group
Orphanet J Rare Dis 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6. PMID: 36303195Free PMC Article
Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome).
Kong W, Yao Y, Zhang J, Lu C, Ding Y, Meng Y
Eur J Pharmacol 2020 Dec 5;888:173562. Epub 2020 Sep 16 doi: 10.1016/j.ejphar.2020.173562. PMID: 32949598
In Vivo Gene Therapy for Mucopolysaccharidosis Type III (Sanfilippo Syndrome): A New Treatment Horizon.
Marcó S, Haurigot V, Bosch F
Hum Gene Ther 2019 Oct;30(10):1211-1221. doi: 10.1089/hum.2019.217. PMID: 31482754

Recent clinical studies

Etiology

Structural and mechanistic insights into a lysosomal membrane enzyme HGSNAT involved in Sanfilippo syndrome.
Zhao B, Cao Z, Zheng Y, Nguyen P, Bowen A, Edwards RH, Stroud RM, Zhou Y, Van Lookeren Campagne M, Li F
Nat Commun 2024 Jun 25;15(1):5388. doi: 10.1038/s41467-024-49614-1. PMID: 38918376Free PMC Article
Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood-onset dementia.
Winner LK, Rogers ML, Snel MF, Hemsley KM
J Neurochem 2023 Aug;166(3):481-496. Epub 2023 Jun 26 doi: 10.1111/jnc.15891. PMID: 37357981
Sanfilippo syndrome: consensus guidelines for clinical care.
Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C; MPS III Guideline Development Group
Orphanet J Rare Dis 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6. PMID: 36303195Free PMC Article
Hip pathologies in mucopolysaccharidosis type III.
Breyer SR, Vettorazzi E, Schmitz L, Gulati A, von Cossel KM, Spiro A, Rupprecht M, Stuecker R, Muschol NM
J Orthop Surg Res 2021 Mar 19;16(1):201. doi: 10.1186/s13018-021-02340-6. PMID: 33741007Free PMC Article
Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies.
Gilkes JA, Heldermon CD
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:133-40. PMID: 25345095

Diagnosis

Sanfilippo syndrome: consensus guidelines for clinical care.
Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C; MPS III Guideline Development Group
Orphanet J Rare Dis 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6. PMID: 36303195Free PMC Article
Glycosaminoglycans and mucopolysaccharidosis type III.
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G
Front Biosci (Landmark Ed) 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463. PMID: 27100513
Sanfilippo syndrome: Overall review.
Andrade F, Aldámiz-Echevarría L, Llarena M, Couce ML
Pediatr Int 2015 Jun;57(3):331-8. doi: 10.1111/ped.12636. PMID: 25851924
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape.
Bodamer OA, Giugliani R, Wood T
Mol Genet Metab 2014 Sep-Oct;113(1-2):34-41. Epub 2014 Jul 16 doi: 10.1016/j.ymgme.2014.07.013. PMID: 25127543
Sulphamidase.
Anson DS, Bielicki J
Int J Biochem Cell Biol 1999 Mar-Apr;31(3-4):363-7. doi: 10.1016/s1357-2725(98)00148-4. PMID: 10224661

Therapy

Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood-onset dementia.
Winner LK, Rogers ML, Snel MF, Hemsley KM
J Neurochem 2023 Aug;166(3):481-496. Epub 2023 Jun 26 doi: 10.1111/jnc.15891. PMID: 37357981
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.
Muschol N, Koehn A, von Cossel K, Okur I, Ezgu F, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E
J Clin Invest 2023 Jan 17;133(2) doi: 10.1172/JCI165076. PMID: 36413418Free PMC Article
Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome).
Kong W, Yao Y, Zhang J, Lu C, Ding Y, Meng Y
Eur J Pharmacol 2020 Dec 5;888:173562. Epub 2020 Sep 16 doi: 10.1016/j.ejphar.2020.173562. PMID: 32949598
In Vivo Gene Therapy for Mucopolysaccharidosis Type III (Sanfilippo Syndrome): A New Treatment Horizon.
Marcó S, Haurigot V, Bosch F
Hum Gene Ther 2019 Oct;30(10):1211-1221. doi: 10.1089/hum.2019.217. PMID: 31482754
Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration.
Lau AA, Hemsley KM
J Mol Med (Berl) 2017 Oct;95(10):1043-1052. Epub 2017 Jun 29 doi: 10.1007/s00109-017-1562-0. PMID: 28660346

Prognosis

Mortality in patients with Sanfilippo syndrome.
Lavery C, Hendriksz CJ, Jones SA
Orphanet J Rare Dis 2017 Oct 23;12(1):168. doi: 10.1186/s13023-017-0717-y. PMID: 29061114Free PMC Article
Glycosaminoglycans and mucopolysaccharidosis type III.
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G
Front Biosci (Landmark Ed) 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463. PMID: 27100513
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape.
Bodamer OA, Giugliani R, Wood T
Mol Genet Metab 2014 Sep-Oct;113(1-2):34-41. Epub 2014 Jul 16 doi: 10.1016/j.ymgme.2014.07.013. PMID: 25127543
Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III).
White KK, Karol LA, White DR, Hale S
J Pediatr Orthop 2011 Jul-Aug;31(5):594-8. doi: 10.1097/BPO.0b013e31821f5ee9. PMID: 21654471
Sanfilippo syndrome: a mini-review.
Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA
J Inherit Metab Dis 2008 Apr;31(2):240-52. Epub 2008 Apr 4 doi: 10.1007/s10545-008-0838-5. PMID: 18392742

Clinical prediction guides

Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice.
Ashby FJ, Castillo EJ, Ludwig Y, Andraka NK, Chen C, Jamieson JC, Kabbej N, Sommerville JD, Aguirre JI, Heldermon CD
Int J Mol Sci 2023 Sep 12;24(18) doi: 10.3390/ijms241813988. PMID: 37762291Free PMC Article
Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood-onset dementia.
Winner LK, Rogers ML, Snel MF, Hemsley KM
J Neurochem 2023 Aug;166(3):481-496. Epub 2023 Jun 26 doi: 10.1111/jnc.15891. PMID: 37357981
Hip pathologies in mucopolysaccharidosis type III.
Breyer SR, Vettorazzi E, Schmitz L, Gulati A, von Cossel KM, Spiro A, Rupprecht M, Stuecker R, Muschol NM
J Orthop Surg Res 2021 Mar 19;16(1):201. doi: 10.1186/s13018-021-02340-6. PMID: 33741007Free PMC Article
Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III.
Lin HY, Chen MR, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP
Orphanet J Rare Dis 2019 Jun 13;14(1):140. doi: 10.1186/s13023-019-1112-7. PMID: 31196149Free PMC Article
Glycosaminoglycans and mucopolysaccharidosis type III.
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G
Front Biosci (Landmark Ed) 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463. PMID: 27100513

Recent systematic reviews

Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis.
Kong W, Wu S, Zhang J, Lu C, Ding Y, Meng Y
J Pediatr Endocrinol Metab 2021 Oct 26;34(10):1225-1235. Epub 2021 Jul 19 doi: 10.1515/jpem-2020-0742. PMID: 34271605
Epidemiology of Sanfilippo syndrome: results of a systematic literature review.
Zelei T, Csetneki K, Vokó Z, Siffel C
Orphanet J Rare Dis 2018 Apr 10;13(1):53. doi: 10.1186/s13023-018-0796-4. PMID: 29631636Free PMC Article
Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review.
Wolfenden C, Wittkowski A, Hare DJ
J Autism Dev Disord 2017 Nov;47(11):3620-3633. doi: 10.1007/s10803-017-3262-6. PMID: 28856504Free PMC Article

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