Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a lysosomal storage disorder caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S). The gathered substrates in Hunter syndrome include heparan sulfate and dermatan sulfate. The syndrome contains X-linked recessive inheritance.
It is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. Since the body does not have enough of this enzyme to break down specific complicated molecules, the molecules develop in dangerous amounts.
In HS, the accumulation of enormous amounts of those dangerous substances eventually causes irreversible, progressive harm affecting the look, psychological development, organ function and physical skills.
Hunter syndrome appears in kids as young as 18 months. It mostly occurs in boys, but very infrequently it’s been observed in girls.
There is no treatment for Hunter syndrome. Treatment of Hunter syndrome entails management of complications and symptoms.
Signs and symptoms of Hunter Syndrome
Hunter syndrome is 1 kind of a number of inherited metabolic disorders known as mucopolysaccharidoses (MPSs), and Hunter syndrome is also known as MPS II.
Hunter syndrome symptoms vary and range from moderate to severe. Symptoms are not present at birth but often start between ages 2 to 4 weeks.
Signs and symptoms may include:
- A distended abdomen, as a result of enlarged internal organs
- Diarrhea
- White skin growths that resemble pebbles
- Joint stiffness
- Aggressive behavior
- Stunted growth
- Delayed development, such as late walking or talking
- An enlarged head (macrocephaly)
- Thickening of the lips
- A broad nose and flared nostrils
- A protruding tongue
- A deep, hoarse voice
- Abnormal bone size or shape and other skeletal irregularities
Causes of Hunter Syndrome
It develops when a defective chromosome is inherited by the kid’s mother. Due to the defective chromosome, a molecule that is required to break down complex sugar molecules is either lost or malfunctioning.
With this enzyme, enormous amounts of those intricate sugar molecules accumulate in the tissues, blood and connective cells, inducing irreversible and progressive harm.
Prevention
HS is a genetic illness. Speak with your health care provider or a genetic counselor if you are considering having kids and you or any members of your household have a genetic disease or a family history of hereditary disorders.
If you believe that may be a provider, genetic tests can be found. If you currently have a young child with Hunter syndrome, then you might want to seek out the help of a physician or genetic counselor before you’ve got more kids.
Treatment
Because of the very specific nature of the illness, treatment has proven very difficult. The treatment for this disorder is specifically determined for each patient, because all cases are different.
