What is Hurler's syndrome?

The

Hurler syndrome is a rare genetic state where individuals have a shortage or absence of an enzyme called alpha-L-Iduronidase . Alfa-L-Iduronidase is a specific enzyme inside cellular organelles called lysosomes, which are mostly responsible for the breakdown of long-chain sugar molecules, called mucopolysaccharides or glycosaminoglycans. This deficiency often results in the accumulation of dermatan sulphate and heparan sulphate within certain types of cells, causing enlargement and dysfunction of these cells. Since these cells are generally located in organ systems of the body, multiple organs are often seen in Hurler's syndrome. Hurler's syndrome, also called Mukopolysaccharidosis (MPS), is usually characterized by progressive mental retardation of organs and physical deformities, such as dwarf, hand claw and abnormalities of backbone. Eyes are often involved and show signs of corneal turbidity. Patients also often show gross facial features such asGargylism. The stiffness of the joint is often severe, resulting in movement limitation.

The disorder is divided into three types, namely MPS type I-H or Hurler diseases, MPS type I-S or Scheie diseases and MPS type I-H/S or Hurler-Scheie Coyl. Hurler diseases are usually observed during childhood and the disorder is manifested with mental retardation, severe physical deformities and the enlargement of the spleen and liver. Scheia is a disease in adulthood, often with mild or less serious organs and physical deformations, but without mental retardation. Middle MPs type I-H/S or Hurler-Scheie Chose is a condition with manifestations and onset that lies with these two types, usually associated with severe organs such as cardiovascular disease and spleen enlargement, but no mental retardation.

Hurler's syndrome is handed over to the next generation by an autosomal recessive pattern. ANDThe recessive inheritance means that the disease occurs in the child when it gets defective chromosomes or genes from each parent. If only one parent has a defective gene, a child who inherits this gene, becomes a carrier and usually does not show the symptoms of Hurler syndrome.

There are tests that can detect a disorder in the affected individuals. These include urine testing for the presence of mucopolysacchids, ECG, spine X -ray and through genetic testing. Pregnant women who have a family history of mucopolysaccharidosis can also undergo amniocentesis to detect whether the fetus also carries a defective gene. Hurler syndrome treatment includes stem cell transplantation and specific enzyme therapy.