Huntersyndroom

Huntersyndroom, also known as mucopolysaccharidosis II (MPS II), is a rare genetic disorder that affects the body's ability to break down certain complex sugar molecules. This breakdown is a normal process that occurs within cells, and it is mediated by enzymes. In individuals with Huntersyndroom, a deficiency in the enzyme iduronate-2-sulfatase (IDS) prevents the complete breakdown of glycosaminoglycans (GAGs). As a result, these GAGs accumulate in cells throughout the body, leading to progressive cellular damage and a wide range of physical symptoms.

The inheritance pattern for Huntersyndroom is X-linked recessive. This means that the gene responsible for producing IDS is located on the X chromosome. Males have one X and one Y chromosome, while females have two X chromosomes. If a male inherits an altered gene on his X chromosome, he will develop the disorder. Females with one altered gene on one X chromosome and a normal gene on the other X chromosome are typically carriers and do not show symptoms, though they can pass the altered gene to their children.

The symptoms of Huntersyndroom can vary significantly in severity, ranging from mild to severe. Onset typically occurs in early childhood, though some individuals may not show symptoms until later. Common manifestations include coarse facial features, enlarged organs such as the liver and spleen (hepatosplenomegaly), skeletal abnormalities including stiff joints and bone deformities, and short stature. Respiratory problems, heart valve issues, and neurological impairment, including developmental delay and intellectual disability, are also frequently observed. The progressive nature of the disease means that symptoms worsen over time. Diagnosis is usually made through enzyme assays and genetic testing. While there is no cure for Huntersyndroom, treatments aim to manage symptoms and improve quality of life, often involving enzyme replacement therapy, supportive care for specific organ systems, and physical therapy.