Hunter syndrome is a lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase (I2S). Silver-Russell syndrome; Silver syndrome. Mucopolysaccharidosis type II (MPS II) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. Hurler syndrome takes its name from Gertrud Hurler, the doctor who described a boy and girl with the condition in 1919.

Later in the 1970s, a number of individuals were described whose disease was intermediate in severity, and who did not fit clearly in either the severe or the mild end of the spectrum; these were historically categorized as Hurler-Scheie syndrome individuals.

As a result, the molecules build up in different parts of the body and cause various health problems. Patients present in the first years of life with musculoskeletal alterations to different degrees including short stature, multiple dysostosis, thoracic-lumbar kyphosis, progressive coarsening of the facial features to different degrees, cardiomyopathy …

Defining Hurler Syndrome.

A urine sample can be checked for the deficient enzyme or for excess amounts of the complex sugar molecules associated with this disorder. The disease was first described in 1917 by physician Charles A. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides). The disorder was first described in the medical literature in 1978 and the causative gene was discovered in 2008.

HELLP syndrome is a rare but serious condition that can happen when you’re pregnant or right after you have your baby. The cause – an enzyme deficiency—was not discovered until 1971. Like Scheie syndrome, affected individuals have a deficiency of the alpha-L-iduronidase specific for accumulation of dermatan sulfate. Mucopolysaccharidosis type I (MPS I) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules.

Horner’s syndrome is also known as oculosympathetic palsy and Bernard-Horner syndrome.

One in 10 children with this syndrome has a problem involving chromosome 7. Horner’s syndrome is a mix of symptoms that … This enzyme's job is to break down certain complex molecules, and without enough of this enzyme, the molecules build up in harmful amounts.

It is a form of lysosomal storage disease.Hunter Syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). MPS I is a mucopolysaccharide disease also called Hurler, Hurler-Scheie and Scheie syndrome. deficiency was discovered in 1971, and it was clearly established that Scheie and Hurler syndromes had the same underlying cause.

Pitt-Hopkins syndrome is caused by a change (mutation) in the TCF4 gene. This mutation occurs spontaneously and in almost all instances, does not run in a family.

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