Hunter syndrome

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Hunter syndrome
Hunter syndrome
Synonyms Mucopolysaccharidosis type II, MPS II
Pronounce
Specialty Medical genetics
Symptoms Developmental delay, hepatosplenomegaly, joint stiffness, coarse facial features
Complications N/A
Onset Usually between ages 2 and 4
Duration Lifelong
Types N/A
Causes Genetic mutation in the IDS gene
Risks Family history
Diagnosis Genetic testing, urine test for glycosaminoglycans
Differential diagnosis Hurler syndrome, Sanfilippo syndrome, Morquio syndrome
Prevention N/A
Treatment Enzyme replacement therapy, hematopoietic stem cell transplantation
Medication Idursulfase
Prognosis Variable, often reduced lifespan
Frequency 1 in 100,000 to 1 in 170,000 male births
Deaths


A rare genetic disorder affecting metabolism


X-linked recessive inheritance
Dermatan sulfate

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that primarily affects males. It is one of the lysosomal storage disorders and is caused by a deficiency of the enzyme iduronate-2-sulfatase. This enzyme deficiency leads to the accumulation of glycosaminoglycans (GAGs) in the body's cells, which can cause a variety of symptoms and complications.

Genetics[edit | edit source]

Hunter syndrome is an X-linked recessive disorder, meaning the defective gene is located on the X chromosome. Since males have only one X chromosome, a single defective gene is sufficient to cause the disorder. Females, having two X chromosomes, are typically carriers and usually do not exhibit symptoms, although some may have mild manifestations.

Pathophysiology[edit | edit source]

The enzyme iduronate-2-sulfatase is responsible for breaking down complex molecules known as glycosaminoglycans. In individuals with Hunter syndrome, the deficiency of this enzyme leads to the accumulation of GAGs, such as dermatan sulfate and heparan sulfate, in various tissues. This accumulation disrupts normal cellular function and leads to the symptoms associated with the disorder.

Symptoms[edit | edit source]

The symptoms of Hunter syndrome can vary widely among affected individuals and may include:

  • Developmental delay
  • Coarse facial features
  • Enlarged liver and spleen (hepatosplenomegaly)
  • Joint stiffness
  • Hearing loss
  • Heart valve abnormalities
  • Respiratory issues

Symptoms typically appear between the ages of 2 and 4 years and can progress over time. The severity of the disorder can range from mild to severe.

Diagnosis[edit | edit source]

Diagnosis of Hunter syndrome is based on clinical evaluation, family history, and laboratory tests. Enzyme assays can measure the activity of iduronate-2-sulfatase in blood or skin cells. Genetic testing can confirm the diagnosis by identifying mutations in the IDS gene.

Treatment[edit | edit source]

Currently, there is no cure for Hunter syndrome, but treatments are available to manage symptoms and improve quality of life. These include:

  • Enzyme replacement therapy (ERT) with idursulfase, which can help reduce GAG accumulation.
  • Supportive care, such as physical therapy, occupational therapy, and speech therapy.
  • Surgical interventions for complications like carpal tunnel syndrome or heart valve issues.

Prognosis[edit | edit source]

The prognosis for individuals with Hunter syndrome varies depending on the severity of the condition. Those with a milder form may live into adulthood, while those with a more severe form may have a reduced life expectancy due to complications such as respiratory failure or cardiac issues.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD