Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
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Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Biochemistry
Biochemistry and metabolism
Amino acid metabolism
Nitrogen and urea cycle
Citric acid cycle
Electron transport chain and oxidative phosphorylation
Gluconeogenesis
Glycogen metabolism
Glycolysis
Pentose phosphate pathway
Physiological changes during exercise
Cholesterol metabolism
Fatty acid oxidation
Fatty acid synthesis
Ketone body metabolism
Metabolic disorders
Alkaptonuria
Cystinuria (NORD)
Hartnup disease
Homocystinuria
Maple syrup urine disease
Ornithine transcarbamylase deficiency
Phenylketonuria (NORD)
Essential fructosuria
Galactosemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hereditary fructose intolerance
Lactose intolerance
Pyruvate dehydrogenase deficiency
Abetalipoproteinemia
Familial hypercholesterolemia
Hyperlipidemia
Hypertriglyceridemia
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)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Fabry disease (NORD)
Gaucher disease (NORD)
Krabbe disease
Leukodystrophy
Metachromatic leukodystrophy (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Tay-Sachs disease (NORD)
Cystinosis
Disorders of amino acid metabolism: Pathology review
Disorders of carbohydrate metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Dyslipidemias: Pathology review
Glycogen storage disorders: Pathology review
Lysosomal storage disorders: Pathology review
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Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
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First Aid
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Hunter syndrome p. 58, 86
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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.
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.
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