Living with a rare genetic disorder is not easy – just ask any of the few thousand people in the U.S. living with Hunter Syndrome, also known as Mucopolysaccharidosis Type II (MPS-II).
It’s an inherited condition characterized by physical and intellectual disability caused by missing or malfunctioning enzymes needed to break down certain complex carbohydrates.
Genetic Mutations and Enzyme Deficiency
Hunter Syndrome is caused by a genetic mutation that affects the production of an enzyme called iduronate-2-sulfatase (I2S).
This enzyme is necessary to break down complex carbohydrates called glycosaminoglycans (GAGs) in the body. Without enough functioning I2S, GAGs build up in various tissues and organs, causing damage to the body.
Hunter Syndrome Inheritance Patterns and Risk Factors
Hunter Syndrome is an X-linked recessive disorder, meaning that the mutation that causes the disorder is located on the X chromosome, one of the two sex chromosomes.
Since males only have one X chromosome, they will develop the disorder if they inherit a mutated X chromosome from their mother. Conversely, females have two X chromosomes to inherit a mutated X chromosome from either parents or only one parent.
Hunter Syndrome – Physical Symptoms
The physical Hunter syndrome symptoms are as follows:
• A prominent bulging forehead
• A flat nose bridge
• A short stature
• Abnormal curvature of the spine
• Deformities in the bones of the chest and pelvis
• Organ enlargement, particularly of the liver and spleen
Cognitive and Developmental Symptoms
The cognitive and developmental symptoms are:
• Delayed speech, motor skills, and intellectual development
• Behavioral issues, such as hyperactivity and aggression.
• Intellectual disability, from mild to severe impairment.
Diagnosis and Hunter Syndrome
There are several methods used to diagnose Hunter Syndrome, including physical examination, genetic testing, and enzyme activity testing.
Physical examination is a critical diagnostic method for Hunter Syndrome treatment. The characteristic symptoms of Hunter Syndrome are observed to analyze the syndrome’s onset.
In genetic testing, the genes are analyzed to detect any mutations that cause the disorder. Genetic testing is also frequently used in infants and fetuses in families with a history of Hunter Syndrome.
Enzyme Activity Testing
Enzyme activity testing is a diagnostic method that measures the activity of specific enzymes, such as iduronate-2-sulfate.
Currently, there is no Hunter Syndrome treatment that acts as a cure. However, several treatment options can improve the quality of life for those living with this disorder, such as Enzyme replacement therapy and Symptomatic treatment for Hunter Syndrome involves treating the complications associated with the disorder.
The Bottom Line
In conclusion, living with Hunter Syndrome is a challenging journey for both patients and their loved ones. However, understanding the symptoms, potential treatments, and available resources can significantly affect a patient’s quality of life. For more information, please visit www.hunterpatients.com
Click para leerlo en Español: Síndrome de Hunting Down Hunter: Un trastorno genético raro