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Evolution and natural selection
Independent assortment of genes and linkage
Mendelian genetics and punnett squares
Alagille syndrome (NORD)
Familial adenomatous polyposis
Multiple endocrine neoplasia
Polycystic kidney disease
Treacher Collins syndrome
von Hippel-Lindau disease
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Cri du chat syndrome
Fragile X syndrome
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Ornithine transcarbamylase deficiency
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
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Funding for Hunter Syndrome on Canada AM
Hunter 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.
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.
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