Hunter Syndrome

Hunter Syndrome

The rare condition Hunter syndrome, or mucopolysaccharidosis-2, or MPS-2, runs in families. Boys are primarily affected. Their bodies cannot break down a specific type of sugar that helps create tissue like tendons, skin, and bones. These sugars accumulate in their cells and harm several organs, including the brain. Everybody experiences things differently. Even though your son may not look like his friends, there are things you can do to help him play, make friends, and participate in some of the activities that other children do when they have Hunter syndrome. 


The human body does not properly metabolize specific glucose molecules due to the uncommon genetic disorder Hunter syndrome. These chemicals can potentially harm physical and mental development if they accumulate in organs and tissues over time. According to medical professionals, Hunter syndrome is divided into two kinds: severe and mild. The severe form advances more quickly and entails intellectual impairment. Children between the ages of 6 and 8 start to have difficulties with basic functioning in the most severe situations. Sixty percent of cases are of the severe variety. One of a set of illnesses known as mucopolysaccharidoses is Hunter syndrome. MPS II, often known as mucopolysaccharidosis type II, is another term for Hunter syndrome.

A person is more likely to develop Hunter syndrome if they’re associated with an immediate family member with the condition. Compared to children designated female at birth (AFAB), children allocated male (AMAB) are likelier to inherit the illness. The disease’s association with the X chromosome accounts for this variance. Children with AMAB only receive one X chromosome, whereas children with AFAB receive two. The other chromosome, X, can produce the required enzyme if a child with AFAB gets the defective gene. The consequences associated with Hunter syndrome might vary significantly in severity. To treat these issues, medical professionals occasionally use surgery. They may consist of:

  • Breathing issues brought on by tissue thickening and obstructed airways.
  • Heart illness.
  • Bones and joints that are aberrant.
  • Declining mental capacity.
  • Carpal tunnel disorder
  • Hernias.
  • Seizures.
  • Behavior issues.

Causes and Symptoms:

Due to an issue with a small portion of their mother’s DNA, known as a gene, boys with the condition cannot produce a specific protein. A father with Hunter syndrome will pass on the problematic gene to his daughter, but the child won’t get the condition unless their mother also carries it. Although no member of their family dating back several generations has ever had Hunter syndrome, it is still possible—but extremely unlikely—for someone to get it. An alteration in the IDS gene, which codes for creating a particular enzyme called I2S, is the root cause of Hunter syndrome. The lysosomes of cells typically include this specialized protein, which aids in the digestion of complex sugars known as glycosaminoglycans (GAGs).

Genetic variations in the IDS gene result in a deficiency or absence of I2S, which causes an abnormal accumulation of GAGs in the body’s cells. Hunter syndrome is an X-linked recessive pattern that is present at birth. One of the two sex chromosomes found in every cell, the X chromosome, contains the gene that causes the disease. Boys can get IDS from a single mutated copy of the IDS gene in each cell because male newborns have only one X chromosome. Since female infants have two X chromosomes, IDS must be caused by a mutated copy of the gene on both X chromosomes. “Carriers” are women with one X chromosome that is typically paired with one X chromosome with the disease-causing genetic variant.

In most cases, Hunter syndrome (MPS II) signs do not emerge at birth. Hernias in the stomach area, infections of the eardrum, congestion, and colds are frequently among the initial symptoms. The characteristics of MPS II became more evident as GAG accumulation in the body’s cells continued. A broad forehead, a nose with a flattening bridge, and an expanded tongue are among the distinguishing features in the facial features of numerous kids with the syndrome. They could also have an enormous abdomen and a giant skull. In milder cases, a diagnosis is typically made within the range of 4 and 8 years old, where patients exhibit symptoms comparable to those of children with Hurler-Scheie syndrome. Indicators of the severe, early-onset type include:

  • Aggressive attitude
  • Hyperactivity
  • Over time, mental function deteriorates
  • Severely impaired intellectual capacity
  • Incoherent bodily movements

There may be little to no mental impairment in the late (mild) version.  Symptoms of both kinds include:

  • Palmar-plantar syndrome
  • The face’s rough features
  • Deafness (which progressively worsens)
  • Increased development of hair
  • Joint rigidity
  • Massive head

Homeopathic Treatment for Hunter Syndrome:

Homeopathy promotes healthy tissue and organ growth, which relieves symptoms and enhances function. It takes into account the entire individual. It naturally treats the disorder’s underlying cause. The following are a few homeopathic remedies that can be used to treat Hunter’s syndrome:

  • Ceonathus
  • Cardus mar
  • Chelidonium
  • Lycopodium
  • Nux vom

Enzyme replacement therapy (ERT) can help halt the condition in males with milder Hunter syndrome. Their body can’t produce the protein, so it replaces it. ERT can assist in enhancing:

  • Walking, stair climbing, and general ability to keep up
  • Motion and rigid joints
  • Breathing Development
  • Face and hair characteristics

Umbilical cord blood and bone marrow transplants. These transplants introduce cells into your child’s body in the hopes that they can produce the missing protein. The new cells are obtained through an umbilical cord blood transplant from a newborn child or a bone marrow donor whose stem cells match your child’s. These two treatments carry a considerable risk. They are often only used if no other treatments are effective. Additionally, there is no evidence that they are beneficial in cases of brain damage. Research is now being conducted to develop effective therapies for males with severe Hunter syndrome.

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