|Other encyclopedia topics:||A-Ag Ah-Ap Aq-Az B-Bk Bl-Bz C-Cg Ch-Co Cp-Cz D-Di Dj-Dz E-Ep Eq-Ez F G H-Hf Hg-Hz I-In Io-Iz J K L-Ln Lo-Lz M-Mf Mg-Mz N O P-Pl Pm-Pz Q R S-Sh Si-Sp Sq-Sz T-Tn To-Tz U V W X Y Z 0-9|
|Contents of this page:|
Alternative Names Return to topAlpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I H
Definition Return to top
Hurler syndrome is a rare, inherited disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).
Hurler syndrome belongs to a group of diseases called mucopolysaccharidoses, or MPS.
Causes Return to top
Persons with Hurler syndrome do not make a substance called lysosomal alpha-L-iduronidase. This substance, called an enzyme, helps break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). These molecules are found throughout the body, often in mucus and in fluid around the joints.
Without the enzyme, glycosaminoglycans build up and damage organs, including the heart. Symptoms can range from mild to severe.
Hurler syndrome is inherited, which means that your parents must pass the disease on to you. Both parents need to pass down the faulty gene in order for you to develop Hurler syndrome.
Hurler syndrome is a type of mucopolysaccharidosis called MPS I. Hurler syndrome is the most severe type. It is categorized as MPS I H.
The other subtypes of MPS I are:
Symptoms Return to top
Symptoms of Hurler syndrome most often appear between ages 3 and 8. Infants with severe Hurler syndrome appear normal at birth. Facial symptoms may become more noticeable during the first 2 years of life.
Exams and Tests Return to top
Treatment Return to top
Enzyme replacement therapy adds a working form of the missing enzyme to the body.
Bone marrow transplant has been used in several patients with this condition. The treatment has had mixed results.
Other treatments depend on the organs that are affected.
Support Groups Return to top
For more information and support, contact one of the following organizations:
Outlook (Prognosis) Return to top
Hurler syndrome is a disease with a poor outlook. Children with this disease develop nervous system problems, and can die young.
When to Contact a Medical Professional Return to top
Call your health care provider if:
Prevention Return to top
Experts recommend genetic counseling and testing for couples with a family history of Hurler syndrome who are considering having children.
References Return to top
Staba SL, Escolar ML, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004 May 6;350(19):1960-9.
National Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 03-5115. February 13, 2007.
Wraith JE. Mucopolysaccharidoses and oligosaccharidoses. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer;2006:chap 39.Update Date: 4/15/2009 Updated by: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.