Hurler syndrome

What is Hurler syndrome?

Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease, also gargoylism, is a genetic disorder that results in the buildup of glycosaminoglycans (formerly known as mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage.

MPS I is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the enzyme α-L-iduronidase. MPS I H or Hurler syndrome is the most severe of the MPS I subtypes. The other two types are MPS I S or Scheie syndrome and MPS I H-S or Hurler-Scheie syndrome.

Hurler syndrome is often classified as a lysosomal storage disease, and is clinically related to Hunter Syndrome. Hunter syndrome is X-linked while Hurler syndrome is autosomal recessive.

It is named for Gertrud Hurler (1889–1965), a German pediatrician.

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my son just got diagnosed with Mucolipidosis can some one please help me understand more about it..

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Dr.Khaleel.India ,Mob-9902596161.Khals2000@yahoo.co.in.

mucolipidosis II is a rare inherited metabolic disorder characterized by coarse facial...

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doctor1 MD

my son just got diagnosed with Mucolipidosis can some one please help me understand more about it..

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