Hunter disease

Hunter disease: Description, Causes and Risk Factors: Also called as Hunter syndrome. Hunter diseaseAn error of mucopolysaccharide metabolism characterized by deficiency of iduronate sulfatase with excretion of dermatan sulfate and heparan sulfate in the urine. It is caused by mutation in the iduronate sulfatase gene (IDS) on chromosome Xq. Alternative Name: Mucopolysaccharidosis type II. Hunter disease is a serious genetic disorder that primarily affects males. It interferes with the body's ability to break down and recycle specific mucopolysaccharides also known as glycosaminoglycans or GAG. Hunter syndrome is one of several related lysosomal storage diseases. In Hunter syndrome, GAG build up in cells throughout the body due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S). This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms. As the buildup of GAG continues throughout the cells of the body, signs of Hunter syndrome become more and more visible. Hunter disease is inherited as an X-linked recessive disease. This means that boys will be the ones most often affected, because the defective gene is on the X chromosome. Boys have only 1 copy of the X chromosome. Girls have 2 copies. Because girls have two X chromosomes, their normal copy on one X can provide a functioning gene, even if their other X has the abnormal gene. Mild and severe forms of the disorder result from mutations of IDS gene that regulates production of the iduronate sulfatase enzyme. The effects of Hunter syndrome vary greatly in patients. People with the disease range from infants to school-age children to adults. Symptoms: Often, the first symptoms of Huntersyndrome may include inguinal hernias,ear infections, runny noses, and colds. Physical manifestations of many children with Hunter syndrome include a distinctive coarseness in theirfacial features, including a prominent forehead, a nose with a flattenedbridge, and an enlarged tongue. Neurological symptoms include: Mental deterioration. In severe cases, patients experience respiratory and cardiac problems, enlargement of the liver and spleen, and neurological deficits. The disorder can lead to premature death in severe cases. Diagnosis: Doctors may use laboratory tests to provide additional evidence that an MPSdisorder is present, before making a definitive diagnosis by measuringthe iduronate-2-sulfatase (I2S) enzyme activity. The most commonly usedlaboratory screening test for an MPS disorder is a urine test for GAG.It is important to note that the urine test for GAG can occasionally benormal and yet the child still may have an MPS disorder. A definitivediagnosis of Hunter syndrome is made by measuring I2S activity in serum,white blood cells, or fibroblasts from skin biopsy. In some people withHunter syndrome, analysis of the I2S gene can determine clinical severity.Prenatal diagnosis is routinely available by measuring I2S enzymaticactivity in amniotic fluid or in chorionic villus tissue. Treatment: No curative therapy is currently available. Treatment is supportive and symptomatic and often focuses on cardiac complications. Parents often have difficulty coping with behavioural disturbance in their children and need psychosocial support. Currently, enzyme replacement therapy is being studied, which may help some individuals affected with MPS II. Researchers continue to look for more effective method to treat these disorders, and hopefully those affected will have more and better options available in the near future. Disclaimer:The above information is just informative purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.  


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