About: Mucopolysaccharidosis type I

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Mucopolysaccharidosis type I is a spectrum of diseases in the mucopolysaccharidosis family. It results in the buildup of glycosaminoglycans (or GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of GAGs in lysosomes. Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Mucopolysaccharidosis type I (en)
rdfs:comment	Mucopolysaccharidosis type I is a spectrum of diseases in the mucopolysaccharidosis family. It results in the buildup of glycosaminoglycans (or GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of GAGs in lysosomes. Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. (en)
foaf:name	Mucopolysaccharidosis type I (en)
name	Mucopolysaccharidosis type I (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Syndromes affecting hearing Syndromes with intellectual disability Skin conditions resulting from errors in metabolism Proteoglycan metabolism disorders
Wikipage page ID	25733404 (xsd:integer)
Wikipage revision ID	1084517115 (xsd:integer)
Link from a Wikipage to another Wikipage	Dermatan sulfate Aortic valve Hurler–Scheie syndrome Genetic carrier Cornea Autosomal recessive disorders Chromosome 4 Glycosaminoglycan Syndromes affecting hearing Syndromes with intellectual disability Hunter syndrome Hurler syndrome Skin conditions resulting from errors in metabolism Proteoglycan metabolism disorders Heparan sulfate Hepatomegaly Splenomegaly dbr:Iduronidase Inguinal hernia Mucopolysaccharidosis Umbilical hernia Scheie syndrome Retinopathy
sameAs	Mucopolysaccharidosis type I Mucopolysaccharidosis type I Mucopolysaccharidosis type I
dbp:wikiPageUsesTemplate	dbt:Mucopolysaccharidoses dbt:Citation_needed dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Redirect
thumbnail	wiki-commons:Special:FilePath/Dermatan_sulfate.png?width=300
treatment	Enzyme replacement therapy with iduronidase; surgery (en)
caption	Structure of dermatan sulfate, one of the molecules that accumulates in the lysosomes of MPS I patients (en)
causes	Deficiency of the alpha-L iduronidase enzyme (en)
frequency	1 (xsd:integer)
synonyms	MPS ! (en)
has abstract	Mucopolysaccharidosis type I is a spectrum of diseases in the mucopolysaccharidosis family. It results in the buildup of glycosaminoglycans (or GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of GAGs in lysosomes. Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. MPS I may present with a wide spectrum of symptoms, depending on how much functional enzyme is produced. In severe forms, symptoms appear during childhood, and early death can occur due to organ damage. In mild cases, the patient may live into adulthood. (en)
differential	Hunter syndrome; other mucopolysaccharidoses (en)
prognosis	3.786912E8 (second)
treatment	dbr:Iduronidase
prov:wasDerivedFrom	wikipedia-en:Mucopolysaccharidosis_type_I?oldid=1084517115&ns=0
page length (characters) of wiki page	6805 (xsd:nonNegativeInteger)
differential diagnosis	Hunter syndrome Mucopolysaccharidosis
foaf:isPrimaryTopicOf	wikipedia-en:Mucopolysaccharidosis_type_I
is Link from a Wikipage to another Wikipage of	Sanfilippo syndrome Sangamo Therapeutics List of disorders included in newborn screening programs Hurler–Scheie syndrome Morquio syndrome Maroteaux–Lamy syndrome Chromosome 4 Hunter syndrome Hurler syndrome Transcytosis Mucopolysaccharidosis Scheie syndrome MPS I
is Wikipage redirect of	MPS I
is differential diagnosis of	Hurler–Scheie syndrome Hunter syndrome Scheie syndrome
is foaf:primaryTopic of	wikipedia-en:Mucopolysaccharidosis_type_I

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