Hurler Syndrome

Abhishek Jha

Definition

 Also known as mucopolysaccharidosis type I (MPS I).

An autosomal recessive inherited disease.

Cause by  deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes.

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Prevalence

Hurler syndrome has an overall frequency of 1 per 100,000

Newborn infants with this defect appear normal at birth.

By the end of the first year, signs of impending's problem begin to develop.

Parent of children MPS I carry a defective IDUA gene, which has been mapped to the 4p16.3 site on chromosome 4.

Symptoms

Slow development in children occur.

Coarse, thick facial features

Prominent dark eyebrows

Progressive stiffness in joints

Mental retardation

Umbilical hernia

Deafness

Shortness in breath

Abnormal bones of spine and claw hand

Full lips with a thick , large tongue.

Increased body hair

Diagnosis

Diagnosis often can be made through clinical examination and urine tests.

 Enzyme assays

Amniocentesis and chorionic villus sampling can verify if a fetus either carries a copy of the defective gene.

Genetic counseling

Treatment

Enzyme replacement therapies are currently in use.

Gene therapy also considering nowadays.

Bone marrow transplantation (BMT) and umbilical cord blood transplantation (UCBT) can be used as treatments for MPS. 

There is no cure for MPS I.

References http://www.ninds.nih.gov/

disorders/mucopolysaccharidose

s/detail_mucopolysacch

aridoses.htm.http://en.wikipedia.org/wiki/Hurler_syndrome

Thank you