Derek’s Story: Surviving Hurler Syndrome Jono Nagel October 24, 2012 Stories When Derek Hanewacker of Flint, Mich., was only 10 months old he was diagnosed with Hurler Syndrome, a rare genetic disorder that causes progressive physical and mental deterioration. We are reporting a case of Hurler’s syndrome which affec ted a male child of 13 years. Hurler Syndrome is a significantly rare genetic medical condition in which the body is unable to break down sugar molecules called glycosaminoglycans resulting in a gradual buildup of this molecule resulting in a variety of symptoms and complications. Incidence: Hurler syndrome, a Mucopolysaccharidosis type 1 (MPS I) condition, occurs in ~1/100,000 infants born.It is a panethnic condition, affecting individuals all over the world, however there is a higher proportion of infants born with Hurler syndrome in North America and Europe than in Latin America or the Asia Pacific region. Hurler Syndrome or Hurler Disease is the historical term for the most severe version of MPS. MPS I (Hurler-Scheie syndrome ) is caused by a recessive gene. The clinical features of Hurler syndrome include coarse facies, corneal clouding, mental retardation, hernias, dysostosis multiplex, and hepatosplenomegaly. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance.
Hurler’s syndrome, also called Gargoylism, or Mucopolysaccharidosis I, one of several rare genetic disorders involving a defect in the metabolism of mucopolysaccharides, the class of polysaccharides that bind water to unite cells and to lubricate joints.Onset of the syndrome is in infancy or early childhood, and the disease occurs with equal frequency in both sexes. In Hurler syndrome, the body is missing an important protein (enzyme) to break down a sugary substance in the body. Hurler was the last name of the doctor who first described the condition. There is a one in four chance with every pregnancy that the child will inherit the defective gene from each carrier parent and will be affected with the disease. The syndrome affects a person's metabolism so that it is unable to break down long chains of sugar molecules called, 'glycosaminoglycans,' which were formerly referred to as, 'mucopolysaccarides.' Hurler was the last name of the doctor who first described the condition. Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 … The medical literature describes Hurler disease as a condition with very rapid disease progression, developmental delay, … Hurler syndrome takes its name from Gertrud Hurler, the doctor who described a …
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