Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
27,069views
00:00 / 00:00
Videos
Notes
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Partner videos
The France Foundation
Using an inhaler: Information for patients and families
Vision Hero
Bike helmet safety: Information for patients and families
The Primary School
Toxic stress: Information for patients and families (The Primary School)
ADHD: Information for patients and families (The Primary School)
Asthma: Information for patients and families (The Primary School)
Childhood nutrition and obesity: Information for patients and families (The Primary School)
Childhood oral health: Information for patients and families (The Primary School)
Food allergies and EpiPens: Information for patients and families (The Primary School)
The National Organization for Rare Disorders (NORD)
Narcolepsy (NORD)
Adrenoleukodystrophy (NORD)
Zellweger spectrum disorders (NORD)
Glycogen storage disease type II (NORD)
Metachromatic leukodystrophy (NORD)
Gaucher disease (NORD)
Niemann-Pick disease types A and B (NORD)
Fabry disease (NORD)
Tay-Sachs disease (NORD)
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Phenylketonuria (NORD)
Cystinuria (NORD)
Aromatic L-amino acid decarboxylase deficiency (NORD)
Cerebrotendinous xanthomatosis (NORD)
Autoimmune polyglandular syndrome type 1 (NORD)
Thyroid eye disease (NORD)
Opsoclonus myoclonus syndrome (NORD)
Thyroid eye disease (NORD)
Short bowel syndrome (NORD)
Bile synthesis disorders (NORD)
Polycythemia vera (NORD)
Essential thrombocythemia (NORD)
Myelofibrosis (NORD)
Warm autoimmune hemolytic anemia and cold agglutinin (NORD)
Sickle cell disease (NORD)
Post-transplant lymphoproliferative disorders (NORD)
Cytomegalovirus infection after transplant (NORD)
Mycobacterium avium complex (NORD)
Congenital cytomegalovirus (NORD)
Opsoclonus myoclonus syndrome (NORD)
Spinocerebellar ataxia (NORD)
Early infantile epileptic encephalopathy (NORD)
IgA nephropathy (NORD)
Focal segmental glomerulosclerosis (NORD)
Alagille syndrome (NORD)
Glut1 Deficiency Foundation
Glut1 deficiency syndrome (Glut1 Deficiency Foundation)
Gorlin Syndrome Alliance
Gorlin syndrome (Gorlin Syndrome Alliance)
Assessments
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Flashcards
0 / 12 complete
USMLE® Step 1 questions
0 / 2 complete
High Yield Notes
5 pages
Flashcards
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
of complete
Questions
USMLE® Step 1 style questions USMLE
of complete
Memory Anchors and Partner Content
External References
First Aid
2022
2021
2020
2019
2018
2017
2016
Hunter syndrome p. 58, 86
External Links
Transcript
Content Reviewers
Rishi Desai, MD, MPHHunter syndrome is a rare genetic metabolic disorder that occurs when lysosomal enzymes are absent.
Hunter syndrome is also known as mucopolysaccharidosis type 2.
Mucopolysaccharides or glycosaminoglycans are types of complex sugars, which are produced by the cells and exported to the extracellular space.
Examples include heparan sulfate and dermatan sulfate.
Both heparan sulfate and dermatan sulfate can be found on almost all cell surfaces as well as in the basement membrane, which separates epithelial cells from the connective tissue that lies beneath.
When mucopolysaccharides like heparin sulfate and dermatan sulfate need to get degraded, they are taken over to a lysosome, which contains enzymes needed to break down the mucopolysaccharides.
Each mucopolysaccharide requires multiple enzymes to fully degrade, and some mucopolysaccharides share certain enzymes in common.
For example, both heparan sulfate and dermatan sulfate need the iduronate sulfatase and alpha-L-iduronidase enzymes to get broken down.
Hunter syndrome is caused by a deficiency in iduronate sulfatase, and the result is that heparan sulfate and dermatan sulfate can’t be degraded, so they build up in various tissues.
Hunter Syndrome is an X-linked recessive disorder so it’s more common in males.
Summary
Mucopolysaccharide storage disease type 2, also known as Hunter syndrome, is an inherited disorder caused by a deficiency in the iduronate sulfatase enzyme. This enzyme is responsible for breaking down glycosaminoglycans (GAGs) which are large molecules that include heparan sulfate and dermatan sulfate.
Deficiency in iduronate sulfatase results in GAGs accumulating in organs and tissues throughout the body, leading to a wide range of symptoms, such as developmental delay, hearing loss, respiratory difficulties, enlarged organs, and skin abnormalities. Treatment focuses on managing symptoms, and may include physical, occupational, and speech therapies, enzyme replacement therapy, and bone marrow transplantation.
Copyright © 2023 Elsevier, except certain content provided by third parties
Cookies are used by this site.
USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.
