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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

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
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
Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale.
Shapiro EG, Nestrasil I, Ahmed A, Wey A, Rudser KR, Delaney KA, Rumsey RK, Haslett PA, Whitley CB, Potegal M
Mol Genet Metab 2015 Apr;114(4):594-8. Epub 2015 Mar 5 doi: 10.1016/j.ymgme.2015.02.008. PMID: 25770355Free 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

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
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
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

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
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
Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.
Coutinho MF, Santos JI, Alves S
Int J Mol Sci 2016 Jul 4;17(7) doi: 10.3390/ijms17071065. PMID: 27384562Free PMC Article

Prognosis

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
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
People with intellectual disability: what do we know about adulthood and life expectancy?
Coppus AM
Dev Disabil Res Rev 2013;18(1):6-16. doi: 10.1002/ddrr.1123. PMID: 23949824
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

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
Evaluation of biomarkers for Sanfilippo syndrome.
Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M
Mol Genet Metab 2019 Sep-Oct;128(1-2):68-74. Epub 2019 May 9 doi: 10.1016/j.ymgme.2019.05.005. PMID: 31104888
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
Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale.
Shapiro EG, Nestrasil I, Ahmed A, Wey A, Rudser KR, Delaney KA, Rumsey RK, Haslett PA, Whitley CB, Potegal M
Mol Genet Metab 2015 Apr;114(4):594-8. Epub 2015 Mar 5 doi: 10.1016/j.ymgme.2015.02.008. PMID: 25770355Free PMC Article

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

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