Hunter syndrome is an X-linked recessive disorder characterized by low or no production of a specific enzyme meant to break down complex sugar molecules in the body. It develops more commonly in boys and represents its presence at the age of 2 to 4 years. It can range from mild to severe form. Its symptoms include abnormal facial features, enlarged head, protruded tongue, hoarse voice, joint stiffness, and many others. It is difficult to diagnose this disease. There is no cure for this disease.
Can Hunter Syndrome Be Reversed?
Hunter syndrome is chromosomal disease and once it develops in the body, it cannot be reversed. It is not curable. Research is going on to develop gene therapy to replace the defective part of the X chromosomes. (1)
Hunter syndrome is also known as mucopolysaccharidosis type II or MPS II. It is an X-linked disorder that leads to a deficiency of an enzyme meant to the breakdown of complex carbohydrates and mucopolysaccharides. It leads to a buildup of these molecules in the organs and tissues. It may damage the organs and result in toxicity. It is caused due to defective genes in X chromosomes. It is more commonly seen in boys than in girls. It can develop in any ethnic group. However, it is more observed in Jewish people who live in Israel.
Hunter Syndrome Treatment
Treatment is aimed to minimize the symptoms and prevent long-term damage to the various parts of the body. It can be treated with the following ways-
Enzyme Replacement Therapy– the deficient enzymes are replaced by specific enzymes named Elaprase through IV infusion. This therapy is known as enzyme replacement therapy (ERT). It can slow down the progress of the disease. It can relieve symptoms related to movement, the stiffness of the joints, breathing, growth, and facial features. It is effective only in cases where the disease has not affected the brain.
Bone Marrow And Umbilical Cord Blood Transplants– bone marrow and umbilical cord can be transplanted to produce the deficient protein in the body. These transplants are prepared from the new cells of a bone marrow donor or stem cells of the umbilical cord from newborn babies. This therapy is helpful to treat this disease where the brain is involved. However, these treatments are high-risk ones and rarely preferred.
Physical Therapy– it can assist in enhancing the movement by reducing the stiffness and pain in the joints.
Medicines Or Surgery– medicines such as melatonin can treat sleep-related problems. Surgery or other medicines can treat other symptoms.
Hunter Syndrome Causes
Hunter syndrome is caused by abnormal genes inherited in X chromosomes from the mother. This genetic defect leads to accumulation of mucopolysaccharides in large quantities in blood and connective tissues. It is a progressive disease that leads to developmental issues and reduction of life expectancy of the patient.
Hunter Syndrome Symptoms
The symptoms of hunter syndrome can be mild or severe. These symptoms do not appear soon after birth. It starts after 2 to 4 years when enough harmful complex sugar molecules get is deposited to disturb the basic functions of the body. These symptoms include-
- Enlargement of the head
- Thickened lips
- Nose grows broad and nostrils become flared
- The tongue becomes thickened and protruded
- A deep and hoarse voice
- Chronic diarrhea
- Enlarged abdomen due to the enlargement of
- Abnormal shape and size of bones leading to skeletal irregularities
- Stiffness in the joints
- Stunted growth
- Aggressive behavior
- Delay in development or achieving milestones like walking or talking
- Abnormal growths on the skin which appears like pebbles
Hunter syndrome is an X-linked chromosomal disorder. It cannot be cured or reversed. Various treatment options are employed that can relieve the symptoms and reduce the pace of progress of the disease, but it cannot reverse the disorder. Genetic counseling can reduce the incidences of this disorder in the child.
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