U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

N-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome.
De Pasquale V, Esposito A, Scerra G, Scarcella M, Ciampa M, Luongo A, D'Alonzo D, Guaragna A, D'Agostino M, Pavone LM
J Med Chem 2023 Feb 9;66(3):1790-1808. Epub 2023 Jan 25 doi: 10.1021/acs.jmedchem.2c01617. PMID: 36696678Free PMC Article
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

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
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma MM, Marra M, Igelman AD, Ku CA, Burr A, Andersen K, Everett LA, Porto FBO, Sallum JMF, Yang P, Pennesi ME
Ophthalmic Genet 2024 Apr;45(2):167-174. Epub 2023 Aug 17 doi: 10.1080/13816810.2023.2245035. PMID: 37592806
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
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
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
A case report of Sanfilippo syndrome - the long way to diagnosis.
Lorenz D, Musacchio T, Kunstmann E, Grauer E, Pluta N, Stock A, Speer CP, Hebestreit H
BMC Neurol 2022 Mar 15;22(1):93. doi: 10.1186/s12883-022-02611-7. PMID: 35291973Free 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
Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.
Wijburg FA, Węgrzyn G, Burton BK, Tylki-Szymańska A
Acta Paediatr 2013 May;102(5):462-70. Epub 2013 Feb 6 doi: 10.1111/apa.12169. PMID: 23336697Free PMC Article
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

Anakinra in Sanfilippo syndrome: a phase 1/2 trial.
Polgreen LE, Chen AH, Pak Y, Luzzi A, Morales Garval A, Acevedo J, Bitan G, Iacovino M, O'Neill C, Eisengart JB
Nat Med 2024 Sep;30(9):2473-2479. Epub 2024 Jun 21 doi: 10.1038/s41591-024-03079-3. PMID: 38907160Free PMC Article
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
Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry.
Yi F, Hong X, Kumar AB, Zong C, Boons GJ, Scott CR, Turecek F, Robinson BH, Gelb MH
Mol Genet Metab 2018 Sep;125(1-2):59-63. Epub 2018 May 23 doi: 10.1016/j.ymgme.2018.05.005. PMID: 30006231Free PMC Article
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
Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA.
King B, Marshall NR, Hassiotis S, Trim PJ, Tucker J, Hattersley K, Snel MF, Jolly RD, Hopwood JJ, Hemsley KM
J Inherit Metab Dis 2017 May;40(3):443-453. Epub 2016 Nov 10 doi: 10.1007/s10545-016-9994-1. PMID: 27832416

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
A case report of Sanfilippo syndrome - the long way to diagnosis.
Lorenz D, Musacchio T, Kunstmann E, Grauer E, Pluta N, Stock A, Speer CP, Hebestreit H
BMC Neurol 2022 Mar 15;22(1):93. doi: 10.1186/s12883-022-02611-7. PMID: 35291973Free PMC Article
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.
Clark WT, Kasak L, Bakolitsa C, Hu Z, Andreoletti G, Babbi G, Bromberg Y, Casadio R, Dunbrack R, Folkman L, Ford CT, Jones D, Katsonis P, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Nodzak C, Pal LR, Radivojac P, Savojardo C, Shi X, Zhou Y, Uppal A, Xu Q, Yin Y, Pejaver V, Wang M, Wei L, Moult J, Yu GK, Brenner SE, LeBowitz JH
Hum Mutat 2019 Sep;40(9):1519-1529. doi: 10.1002/humu.23875. PMID: 31342580Free 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
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
Valstar MJ, Bruggenwirth HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, Halley DJ, Wijburg FA
J Inherit Metab Dis 2010 Dec;33(6):759-67. Epub 2010 Sep 18 doi: 10.1007/s10545-010-9199-y. PMID: 20852935Free PMC Article

Clinical prediction guides

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma MM, Marra M, Igelman AD, Ku CA, Burr A, Andersen K, Everett LA, Porto FBO, Sallum JMF, Yang P, Pennesi ME
Ophthalmic Genet 2024 Apr;45(2):167-174. Epub 2023 Aug 17 doi: 10.1080/13816810.2023.2245035. PMID: 37592806
Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores.
Deltuvaite-Thomas V, De Backer M, Parker S, Deneux M, Polgreen LE, O'Neill C, Salvaggio S, Buyse M
Orphanet J Rare Dis 2023 Oct 12;18(1):321. doi: 10.1186/s13023-023-02943-8. PMID: 37828533Free PMC Article
Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.
Różdżyńska-Świątkowska A, Zielińska A, Tylki-Szymańska A
Orphanet J Rare Dis 2022 Sep 5;17(1):339. doi: 10.1186/s13023-022-02486-4. PMID: 36064607Free PMC Article
Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA.
King B, Marshall NR, Hassiotis S, Trim PJ, Tucker J, Hattersley K, Snel MF, Jolly RD, Hopwood JJ, Hemsley KM
J Inherit Metab Dis 2017 May;40(3):443-453. Epub 2016 Nov 10 doi: 10.1007/s10545-016-9994-1. PMID: 27832416
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • 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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...