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| {{short description|Mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain}} | | {{Infobox medical condition |
| | | | name = Sanfilippo syndrome |
| {{Infobox medical condition (new) | | | image = [[File:Hadar_Sanfilippo.jpg|250px]] |
| | name = Sanfilippo Syndrome (MPS III) | | | caption = A child with Sanfilippo syndrome |
| | image = Hadar Sanfilippo.jpg | | | synonyms = Mucopolysaccharidosis type III (MPS III) |
| | caption = 12-year-old girl with Sanfilippo Syndrome Type A | | | pronounce = |
| | pronounce = /ˌsanfɪˈliːpəʊz/ | | | specialty = [[Medical genetics]] |
| | field = | | | symptoms = [[Developmental delay]], [[behavioral problems]], [[sleep disturbances]], [[hearing loss]], [[vision problems]] |
| | synonyms = '''[[Mucopolysaccharidosis]] III; MPS III''' | | | onset = Early childhood |
| | symptoms = Progressive intellectual disability; <br>hyperactivity; dementia; loss of mobility | | | duration = Progressive |
| | complications =
| | | types = Type A, Type B, Type C, Type D |
| | onset = Birth; symptoms usually become apparent between ages 2-6 | | | causes = [[Genetic mutation]] |
| | duration = Lifelong | | | risks = [[Autosomal recessive]] inheritance |
| | types = Sanfilippo Syndrome Types A, B, C, and D | | | diagnosis = [[Genetic testing]], [[urine test]] for [[glycosaminoglycans]] |
| | causes = Inherited enzyme deficiency | | | differential = Other [[mucopolysaccharidoses]], [[autism spectrum disorder]] |
| | risks = | | | treatment = Supportive care, [[enzyme replacement therapy]] (experimental) |
| | diagnosis = MPS urine screen (initial test), confirmed by blood test | | | prognosis = Poor, with progressive neurological decline |
| | differential = | | | frequency = 1 in 70,000 births |
| | prevention =
| | | deaths = Varies, often in teenage years or early adulthood |
| | treatment = | |
| | medication =
| |
| | prognosis = Lifespan is reduced; most patients survive <br>until the early teenage years,<br> but some may reach their 30s | |
| | frequency = 1 in 70,000<ref name=NINDS>{{cite web|url=https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucopolysaccharidoses-Fact-Sheet |title=Mucopolysaccharidoses Fact Sheet |publisher=[[National Institute of Neurological Disorders and Stroke]]|accessdate=25 May 2018 |date=15 Nov 2017}}</ref> | |
| | deaths = | |
| }} | | }} |
| | | '''Sanfilippo syndrome''', also known as '''Mucopolysaccharidosis type III''' (MPS III), is a [[genetic disorder]] that primarily affects the [[central nervous system]]. It is one of the [[mucopolysaccharidoses]], a group of [[lysosomal storage disorders]] caused by the body's inability to break down [[glycosaminoglycans]] (GAGs), specifically [[heparan sulfate]]. |
| == '''Definition''' ==
| | ==Etiology== |
| | | Sanfilippo syndrome is caused by mutations in one of four genes, each responsible for producing an enzyme involved in the degradation of heparan sulfate. These genes are: |
| '''Sanfilippo syndrome''', also known as '''[[mucopolysaccharidosis]] type III (MPS III)''', is a rare [[autosomal recessive]] [[lysosomal storage disease]] that primarily affects the [[Human brain|brain]] and [[spinal cord]]. It is caused by a buildup of large sugar molecules called [[glycosaminoglycans]] (AKA GAGs, or mucopolysaccharides) in the body's [[lysosome]]s. | | * '''[[SGSH]]''' (Sanfilippo syndrome type A) |
| | | * '''[[NAGLU]]''' (Sanfilippo syndrome type B) |
| == '''Summary''' == | | * '''[[HGSNAT]]''' (Sanfilippo syndrome type C) |
| Affected children generally do not show any signs or symptoms at birth. In early childhood, they begin to develop developmental disability and loss of previously learned skills. In later stages of the disorder, they may develop seizures and movement disorders. Patients with Sanfilippo syndrome usually live into adolescence or early adulthood.<ref name=GeneticsHomeReference>{{cite web|url=https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii|title=Mucopolysaccharidosis type III|date=March 2017|accessdate=22 July 2018|publisher=Genetics Home Reference}}</ref>
| | * '''[[GNS]]''' (Sanfilippo syndrome type D) |
| <youtube>
| | The mutations lead to a deficiency in the corresponding enzyme, resulting in the accumulation of heparan sulfate in the [[lysosomes]] of cells, particularly affecting the [[brain]] and [[nervous system]]. |
| title='''{{PAGENAME}}'''
| | ==Clinical Presentation== |
| movie_url=http://www.youtube.com/v/rpdnGknhDds
| | Symptoms of Sanfilippo syndrome typically appear in early childhood and may include: |
| &rel=1
| | * Developmental delay |
| embed_source_url=http://www.youtube.com/v/rpdnGknhDds
| | * Behavioral problems |
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| | * Sleep disturbances |
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| | * Progressive [[intellectual disability]] |
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| | * [[Seizures]] |
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| | * [[Hearing loss]] |
| </youtube>
| | * [[Vision problems]] |
| | | As the disease progresses, children may lose the ability to speak, walk, and perform other basic functions. |
| | | ==Diagnosis== |
| == '''Cause''' ==
| | Diagnosis of Sanfilippo syndrome is based on clinical evaluation, family history, and genetic testing. Enzyme assays can be performed to measure the activity of the deficient enzyme in blood or skin cells. Genetic testing can confirm the specific mutation responsible for the disorder. |
| * Mutations in the '''GNS, HGSNAT, NAGLU, and SGSH''' genes cause MPS III. | | ==Management== |
| * These genes provide instructions for making [[enzymes]] '''involved in the breakdown of large sugar molecules called [[Glycosaminoglycans (GAGs)|glycosaminoglycans]] (GAGs)'''.
| | There is currently no cure for Sanfilippo syndrome. Management focuses on supportive care to improve quality of life and may include: |
| * GAGs were originally called [[mucopolysaccharides]], which is where this condition gets its name. The GNS, HGSNAT, NAGLU, and SGSH enzymes are involved in the step-wise breakdown of a subset of GAGs called [[heparan sulfate]].
| | * [[Physical therapy]] |
| | | * [[Occupational therapy]] |
| * '''MPS IIIA''' is caused by mutations in the '''SGSH gene''', and
| | * [[Speech therapy]] |
| * '''MPS IIIB''' is caused by''' NAGLU gene''' mutations. | | * [[Behavioral therapy]] |
| * Mutations in the '''HGSNAT gene''' result in '''MPS IIIC''', and '''GNS gene''' mutations cause''' MPS IIID'''. | | * [[Seizure management]] |
| | | Research is ongoing into potential treatments, including [[enzyme replacement therapy]], [[gene therapy]], and [[substrate reduction therapy]]. |
| == '''Gene mutations''' ==
| |
| * Mutations in these genes reduce or '''eliminate enzyme function'''.
| |
| * A lack of any one of these enzymes '''disrupts the breakdown of heparan sulfate'''.
| |
| * As a result, partially broken down '''heparan sulfate accumulates within cells''', specifically inside the [[lysosomes]].
| |
| * Lysosomes are compartments in the cell that digest and recycle different types of molecules.
| |
| * Conditions such as MPS III that cause molecules to build up inside the lysosomes are called [[Lysosomal storage disorder|lysosomal storage disorders]].
| |
| * Researchers believe that the accumulation of GAGs interferes with the functions of other proteins inside the lysosomes and disrupts the normal functions of cells. It is unknown why the buildup of heparan sulfate mostly affects the central nervous system in MPS III.
| |
| | |
| == '''Inheritance''' == | |
| [[File:Autorecessive.svg|thumb|right|Autosomal recessive inheritance, a 25% chance]]
| |
| This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
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| movie_url=http://www.youtube.com/v/=vaoeONbc6nU
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| embed_source_url=http://www.youtube.com/v/=vaoeONbc6nU
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| ==Signs and symptoms==
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| The disease manifests in young children. Symptoms usually begin to appear between 2 and 6 years of age.<ref name=Guide/> Affected infants appear normal, although some mild [[facial dysmorphism]] may be noticeable. Of all of the MPS diseases, Sanfilippo syndrome produces the fewest physical abnormalities.
| |
| After an initial symptom-free interval, patients usually present with a slowing of development and/or behavioral problems, followed by progressive intellectual decline resulting in severe [[dementia]] and progressive motor disease.<ref>{{cite journal |author1=Marlies J. Valstar |author2=Hennie T. Bruggenwirth |author3=Renske Olmer |author4=Ron A. Wevers |author5=Frans W. Verheijen |title=Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype |journal=Inherit Metab Dis |volume=10.1007/s10545-010-9199-y |issue= 6|pages= 759–767|date=September 2010 |pmid= 20852935|pmc=2992652 |doi= 10.1007/s10545-010-9199-y| url=http://www.springerlink.com/content/p852548017101j14/fulltext.pdf|display-authors=etal}}</ref> Acquisition of speech is often slow and incomplete.
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| The disease progresses to increasing behavioral disturbance including [[temper tantrums]], hyperactivity, destructiveness, aggressive behavior, [[Pica (disorder)|pica]], difficulties with toilet training, and sleep disturbance. As affected children initially have normal muscle strength and mobility, the behavioral disturbances may be difficult to manage. The disordered sleep in particular presents a significant problem to care providers.
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| In the final phase of the illness, children become increasingly immobile and unresponsive, often require wheelchairs, and develop swallowing difficulties and seizures. The life-span of an affected child does not usually extend beyond late teens to early twenties.
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| Individuals with MPS Type III tend to have mild skeletal abnormalities; osteonecrosis of the femoral head may be present in patients with the severe form. Optic nerve atrophy, deafness, and otitis can be seen in moderate to severe individuals. Other characteristics include coarse facial features, thick lips, synophrys, and stiff joints.
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| It is difficult to clinically distinguish differences among the four types of Sanfilippo syndrome. However, type A is usually the most severe subtype, characterized by earliest onset, rapid clinical progression with severe symptoms, and short survival.<ref name=Andrade>{{cite journal|last1=Andrade |first1=F. |last2=Aldámiz-Echevarría |first2=L. |last3=Llarena |first3=M. |last4=Couce |first4=M.L. |date=2015 |title=Sanfilippo syndrome: Overall review |journal=[[Pediatrics International]] |volume=57 |issue=3 |pages = 331–8|doi=10.1111/ped.12636|pmid = 25851924}}</ref> The median age of death for children afflicted with type A is 15.4 years, ±4.1 years.<ref name=Tardieu>{{cite news|last=Tardieu |first=Marc |title=Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial|journal=Human Gene Therapy| date= February 2014 | volume=25 |issue=6 |page=506–516|doi=10.1089/hum.2013.238 }}</ref>
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| It is important that simple and treatable conditions such as ear infections and toothaches not be overlooked because of behavior problems that make examination difficult. Children with MPS type III often have an increased tolerance to pain. Bumps, bruises, or ear infections that would be painful for other children often go unnoticed in children with MPS type III. Some children with MPS type III may have a [[coagulation|blood-clotting]] problem during and after surgery.<ref name="Guide">{{cite web|archiveurl=https://web.archive.org/web/20110708212129/http://mps.csupportinc.com/files/booklet_MPS_III_v6.pdf|url=http://mps.csupportinc.com/files/booklet_MPS_III_v6.pdf|title=A Guide to Understanding MPS III|archivedate=8 July 2011|work=web.archive.org|accessdate=13 March 2019}}</ref>
| |
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| ==Mechanism==
| |
| | |
| [[File:Heparan sulfate.png|thumb|right|Structure of [[heparan sulfate]], one of the molecules that builds up in the tissues of people with Sanfilippo syndrome]]
| |
| Glycosaminoglycans (GAGs) are [[polysaccharides|chains of sugar molecules]]. They are found in the [[extracellular matrix]] and the [[cell membrane]], or stored in the secretory granules. GAGs are stored in the cell lysosome, and are degraded by enzymes such as glycosidases, sulfatases, and acetyltransferases. Deficiency in these enzymes lead to the four subtypes of MPS III.<ref name=Andrade />
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| == Diagnosis== | |
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| Sanfilippo Syndrome Types A, B, C, and D are considered to be clinically indistinguishable, although mutations in different genes are responsible for each disease. The following discussion is therefore applicable to all four conditions.
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| | |
| A [[urinalysis]] can show elevated levels of heparan sulfate in the urine.<ref name=MedLinePlus/> All four types of Sanfilippo syndrome show increased levels of GAGs in the urine; however, this is less true of Sanfilippo syndrome than other MPS disorders. Additionally, urinary GAG levels are higher in infants and toddlers than in older children. In order to avoid a [[false negative]] urine test due to [[concentration|dilution]], it is important that a urine sample be taken first thing in the morning. The diagnosis may be confirmed by [[enzyme assay]] of skin [[fibroblasts]] and [[leukocyte|white blood cells]], as well as [[DNA sequencing|gene sequencing]]. [[Prenatal diagnosis]] is possible by [[chorionic villus sampling]] or [[amniocentesis]].<ref name=Medscape/>
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| == Treatment ==
| |
| Treatment remains largely supportive. The behavioral disturbances of MPS-III respond poorly to medication. If an early diagnosis is made, [[bone marrow transplantation|bone marrow replacement]] may be beneficial. Although the missing enzyme can be manufactured and given intravenously, it cannot penetrate the [[blood–brain barrier]] and therefore cannot treat the neurological manifestations of the disease. Along with many other [[lysosomal storage disease]]s, MPS-III exists as a model of a [[Mendelian disease|monogenetic disease]] involving the [[central nervous system]].
| |
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| Several promising therapies are in development. [[Gene therapy]] in particular is under Phase I/II [[clinical trial]] in France since October 2011 under the leadership of Paris-based biotechnology company Lysogene.<ref>{{Cite journal|last=Koberstein|first=Wayne|date=November 7, 2018|title=Lysogene: Mother of Invention|url=https://www.lifescienceleader.com/doc/lysogene-mother-of-invention-0001|journal=Life Science Leader|location=United States|publisher=VertMarkets|volume=|pages=|via=}}</ref><ref>[http://clinicaltrials.gov/ct2/show/NCT01474343 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome] on clinicaltrials.gov</ref> Other potential therapies include chemical modification of deficient enzymes to allow them to penetrate the [[blood–brain barrier]], stabilisation of abnormal but active enzyme to prevent its degradation, and implantation of [[stem cell]]s strongly expressing the missing enzyme. For any future treatment to be successful, it must be administered as early as possible. Currently MPS-III is mainly diagnosed clinically, by which stage it is probably too late for any treatment to be very effective. Neonatal screening programs would provide the earliest possible diagnosis.
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| The flavonoid [[genistein]] decreases the accumulation of GAGs.<ref>http://www.bgo.ug.gda.pl/kbm/dmb/staff/gw.htm</ref> ''In vitro'', animal studies and clinical experiments suggest that the symptoms of the disease may be alleviated by an adequate dose of genistein.<ref name="Piotrowska-2006">{{Cite journal | last1 = Piotrowska | first1 = E. | last2 = Jakóbkiewicz-Banecka | first2 = J. | last3 = Barańska | first3 = S. | last4 = Tylki-Szymańska | first4 = A. | last5 = Czartoryska | first5 = B. | last6 = Wegrzyn | first6 = A. | last7 = Wegrzyn | first7 = G. | title = Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses | journal = European Journal of Human Genetics | volume = 14 | issue = 7 | pages = 846–52 |date=Jul 2006 | doi = 10.1038/sj.ejhg.5201623 | pmid = 16670689 }}</ref> Despite its reported beneficial properties, [[genistein]] also has toxic side effects.<ref name="Jin-2007">{{Cite journal | last1 = Jin | first1 = Y. | last2 = Wu | first2 = H. | last3 = Cohen | first3 = EM. | last4 = Wei | first4 = J. | last5 = Jin | first5 = H. | last6 = Prentice | first6 = H. | last7 = Wu | first7 = JY. | title = Genistein and daidzein induce neurotoxicity at high concentrations in primary rat neuronal cultures | journal = J Biomed Sci | volume = 14 | issue = 2 | pages = 275–84 |date=Mar 2007 | doi = 10.1007/s11373-006-9142-2 | pmid = 17245525 }}</ref>
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| Several support and research groups have been established to speed the development of new treatments for Sanfilippo syndrome.<ref>[https://CureSFF.org/ Cure Sanfilippo Foundation, funding research to accelerate discovery of a cure to Sanfilippo Syndrome]</ref><ref>[http://jonahsjustbegun.org/ Jonah's Just Begun - Foundation to Cure Sanfilippo, Inc.]</ref><ref>[http://phoenixnestbiotech.com/ Phoenix Nest, Inc.], a biotech company seeking treatments and cures for Sanfilippo Syndrome</ref><ref>[http://www.phunkphenomenon.com/the-crews/ Phunk Phenomenon HipHop For Hope], a dance crew in Boston raising awareness for Sanfilippo Syndrome</ref>
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| <ref>[http://www.teamsanfilippo.org/ Team Sanfilippo Foundation], a medical research foundation created by parents of children with Sanfilippo Syndrome</ref>
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| ==Prognosis== | | ==Prognosis== |
| According to a study of patients with Sanfilippo syndrome, the median life expectancy varies depending on the subtype. In Sanfilippo syndrome type A, the mean age at death (± standard deviation) was 15.22 ± 4.22 years. For Type B, it was 18.91 ± 7.33 years, and for Type C it was 23.43 ± 9.47 years. The mean life expectancy for Type A has increased since the 1970s.<ref name="mortality">{{cite journal|title=Mortality in patients with Sanfilippo syndrome |last1=Lavery |first1=Christine |last2=Hendriksz |first2=Chris J. |last3=Jones |first3=Simon A. |journal=[[Orphanet Journal of Rare Diseases]] |volume=12 |issue = 1|pages = 168|date=23 Oct 2017 |doi=10.1186/s13023-017-0717-y |pmid=29061114|pmc = 5654004}}</ref>
| | Sanfilippo syndrome is a progressive disorder with a variable prognosis. Most individuals with the condition experience a decline in cognitive and motor skills, with life expectancy often reduced to the second or third decade of life. |
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| ==Epidemiology== | | ==Epidemiology== |
| Incidence of Sanfilippo syndrome varies geographically, with approximately 1 case per 280,000 live births in Northern Ireland,<ref>{{cite journal |author=Nelson J |title=Incidence of the mucopolysaccharidoses in Northern Ireland |journal=Hum. Genet. |volume=101 |issue=3 |pages=355–8 |date=December 1997 |pmid=9439667 |doi= 10.1007/s004390050641|url=}}</ref> 1 per 66,000 in Australia,<ref name=meikle>{{cite journal |vauthors=Meikle PJ, Hopwood JJ, Clague AE, Carey WF |title=Prevalence of lysosomal storage disorders |journal=JAMA |volume=281 |issue=3 |pages=249–54 |date=January 1999 |pmid=9918480 |doi= 10.1001/jama.281.3.249|url=}}</ref> and 1 per 50,000 in the Netherlands.<ref>{{cite journal |vauthors=Poorthuis BJ, Wevers RA, Kleijer WJ, etal |title=The frequency of lysosomal storage diseases in The Netherlands |journal=Hum. Genet. |volume=105 |issue=1–2 |pages=151–6 |year=1999 |pmid=10480370 |doi= 10.1007/s004390051078|url=}}</ref>
| | Sanfilippo syndrome is a rare disorder, with an estimated incidence of 1 in 70,000 births. It affects both males and females equally and occurs in all ethnic groups. |
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| The Australian study estimated the following incidences for each subtype of Sanfilippo syndrome:
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| {|class="wikitable"
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| ! Sanfilippo syndrome type || Approximate incidence || Percentage of cases || Age of onset
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| |-
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| ! A
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| | 1 in 100,000<ref name=meikle/> || 60% || 1.5-4
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| |-
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| ! B
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| | 1 in 200,000<ref name=meikle/> || 30% || 1-4
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| |-
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| ! C
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| | 1 in 1,500,000<ref name=meikle/> || 4% || 3-7
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| |-
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| ! D
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| | 1 in 1,000,000<ref name=meikle/> || 6% || 2-6
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| |}
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| ==History==
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| The condition is named after [[Sylvester Sanfilippo]], the [[pediatrician]] who first described the disease in 1963.<ref name=Guide/><ref name="Medscape">{{cite web |url=https://emedicine.medscape.com/article/948540-overview |title=Sanfilippo Syndrome (Mucopolysaccharidosis Type III) |last=Defendi |first=Germaine L. |publisher=[[Medscape]] |accessdate=20 June 2019 |date=23 May 2018}}</ref><ref>Sanfilippo, S. J.; Podosin, R.; Langer, L. O., Jr.; Good, R. A. : Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J. Pediat. 63: 837-838, 1963.</ref>
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| ==Caregiver impact==
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| Caregivers for children with Sanfilippo Syndrome face a unique set of challenges because of the disease's complex nature. There is little understanding among clinicians of the family experience of caring for patients with Sanfilippo and how a caregiver's experiences change and evolve as patients age. The burden and impact on caregivers' quality of life is poorly defined and best-practice guidance for clinicians is lacking.<ref name="Shapiro et al">{{cite journal |last1=Shapiro |first1=Elsa |last2=Lourenço |first2=Charles Marques |last3=Mungan |first3=Neslihan Onenli |last4=Muschol |first4=Nicole |last5=O’Neill |first5=Cara |last6=Vijayaraghavan |first6=Suresh |title=Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data |journal=Orphanet Journal of Rare Diseases |date=8 July 2019 |volume=14 |issue=1 |pages=168 |doi=10.1186/s13023-019-1150-1 |url=https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1150-1 |issn=1750-1172}} [[File:CC-BY icon.svg|50px]] Material was copied from this source, which is available under a [https://creativecommons.org/licenses/by/4.0/ Creative Commons Attribution 4.0 International License].</ref>
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| A best-practice guidance to help clinicians understand the challenges caregivers face was published July 2019 in the Orphanet Journal of Rare Diseases by a group of international clinical advisors with expertise in the care of pediatric patients with Sanfilippo, lysosomal storage disorders, and life as a caregiver to a child with Sanfilippo.<ref name="Shapiro et al"/>
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| The group reviewed key aspects of caregiver burden associated with Sanfilippo B by identifying and quantifying the nature and impact of the disease on patients and caregivers. Recommendations were based on findings from qualitative and quantitative research.<ref name="Shapiro et al"/>
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| The article's authors reported that: "Providing care for patients with Sanfilippo B impinges on all aspects of family life, evolving as the patient ages and the disease progresses. Important factors contributing toward caregiver burden include sleep disturbances, impulsive and hyperactive behavior, and communication difficulties...Caregiver burden remained high throughout the life of the patient and, coupled with the physical burden of daily care, had a cumulative impact that generated significant psychological stress."<ref name="Shapiro et al"/>
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| Additionally, the authors call for changing the narrative associated with Sanfilippo: "The panel agreed that the perceived aggressive behavior of the child may be better described as 'physical impulsiveness' and is often misunderstood by the general public. Importantly, the lack of intentionality of the child’s behavior is recognized and shared by parents and panel members...Parents may seek to protect their child from public scrutiny and avoid situations that many engender criticism of their parenting skills."<ref name="Shapiro et al"/>
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| ==See also== | | ==See also== |
| | * [[Lysosomal storage disease]] |
| * [[Mucopolysaccharidosis]] | | * [[Mucopolysaccharidosis]] |
| * [[Hurler syndrome]] ([[Mucopolysaccharidosis type I|MPS I]]) | | * [[Genetic disorder]] |
| * [[Hunter syndrome]] (MPS II)
| | {{Lysosomal storage diseases}} |
| * [[Morquio syndrome]] (MPS IV)
| | {{Genetic disorders}} |
| * [[List of neurological conditions and disorders]]
| | [[Category:Genetic disorders]] |
| | | [[Category:Lysosomal storage diseases]] |
| ==References==
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| {{Reflist}} | |
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| ==External links==
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| *[http://CureSFF.org Cure Sanfilippo Foundation]
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| **[https://curesff.org/wp-content/uploads/2019/05/CureSFF-PhysicianScreeningGuide.pdf A one-page handout] about the clinical symptoms and testing for Sanfilippo Syndrome
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| *{{Commonscatinline}}
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| {{Medical resources
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| | DiseasesDB = 29177
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| | ICD10 = {{ICD10|E|76|2|e|70}}
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| | ICD9 = {{ICD9|277.5}}
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| | ICDO =
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| | OMIM = 252900
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| | OMIM_mult = {{OMIM2|252920}} {{OMIM2|252940}} {{OMIM2|252930}}
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| | MedlinePlus = 001210
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| | eMedicineSubj = ped
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| | eMedicineTopic = 2040
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| | MeshID = D009084
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| }}
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| {{Mucopolysaccharidoses}}
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| {{stub}}
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| [[Category:Autosomal recessive disorders]] | |
| [[Category:Proteoglycan metabolism disorders]] | |
| [[Category:Rare diseases]] | | [[Category:Rare diseases]] |
| [[Category:Syndromes]] | | [[Category:Pediatrics]] |
