Description, Causes and Risk Factors:
Alternative Name: Alpha-L-iduronate deficiency, Hurler syndrome, lipochondrodystrophy, type IH mucopolysaccharidosis, MPS I.
Mucopolysaccharidoses (MPS) are a group of progressive hereditary disorders of connective tissue metabolism in which lysosomal enzyme deficiency leads to intralysosomal deposition of mucopolysaccharides or glycosaminoglycans in the airway, cornea, brain, heart, liver, spleen, bones, ligaments, blood vessels, skin producing various symptoms. Seven different Types of mucopolysaccharidosis have been identified so far and categorized into syndromes according to both the clinical features and demonstrated enzyme deficiencies.
Pfaundler-Hurler syndrome occurs in about one of every 100,000 babies born.
Pfaundler-Hurler syndrome is one of the seven MPS disorder. Children with Pfaundler-Hurler syndrome are born without an enzyme called alpha-L-iduronidase. This enzyme's sole purpose is to break down glycosaminoglycans in the body. Because the absence of alpha-L-iduronidase (IDUA), the sugars (glycosaminoglycans GAGs) accumulate in the body around the heart, brain, vital organs, bones, and muscles. This increased accumulation, in time, leaves the child with various physical and neurological disabilities as well as severe mental impairment, loss of hearing, and potential blindness.
Pfaundler-Hurler syndrome is inherited in an autosomal recessive pattern. A child inherits the syndrome when he or she gets two abnormal genes that affect the IDUA enzyme, one from each parent. If only one parent passes on the gene mutation, the child will not have the disease. Instead, the child will be a "carrier" and may pass the gene mutation to his or her own children.
Current approaches to Pfaundler-Hurler syndrome include genetic counseling for parents who are carriers of the disease, and improvements in early detection of the disease in unborn children.
Symptoms of Pfaundler-Hurler syndrome most often appear between ages 3 and 8.
General symptoms include:
Joint stiffness and skeletal deformities
Coronary heart disease.
Exams and Tests:
Genetic testing for the alpha-L-iduronidase gene.
Urine tests for extra mucopolysaccharides.
X-ray of the spine.
Families affected by Pfaundler-Hurler syndrome may want to talk with a genetic counselor about family planning and the chances of having children with the disorder.
Because Pfaundler-Hurler syndrome is genetic, it is difficult to cure. The goal of treatment is to give the body the missing enzyme so it can break down GAGs. The two main treatments for children with Pfaundler-Hurler syndrome are enzyme replacement therapy (ERT) and a bone marrow or cord blood transplant.
In ERT, a patient is given a drug that has the IDUA enzyme his or her body is missing. Enzyme replacement therapy may be a good option for children who have a form of MPS I disorder that does not cause mental retardation.
A bone marrow or cord blood transplant (BMT) is the only known treatment that can stop the progression of mental damage caused by this disease.
A transplant is an intense treatment, and some possible side effects include:
Bleeding in the lungs (pulmonary hemorrhage).
Graft-versus-host disease (GVHD).
Disclaimer:The above information is general information (informational purpose only, sometimes may not be accurate). The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
A new study, conducted by researchers from institutions in eight countries, suggests that older people who eat a Mediterranean diet may have healthier gut microbiome and improve measures of frailty. In the study, 612 participants aged between 65 and 79 years took...
A new study from Columbia University Irving Medical Center finds that poor sleep affects women’s health as it can contribute to unhealthy food choices and that in its turn increases the risk of obesity and heart disease. For the study, the scientists analyzed the...
No Results Found
The page you requested could not be found. Try refining your search, or use the navigation above to locate the post.
When it is so hot outside you still can find hundreds of ways to cool yourself and drinking a mocktail is one of them. Here are few wonderful recipes for you to try. Kiwi Sour 1 oz orange juice 3 slices kiwi 0.75 oz demerara green tea syrup 0.75 oz lime juice 1 oz...
Many people are motivated for active sports in spring. However, before you buy a membership, you should check which exercises are useful to you and which ones should not be done in any way. Unfortunately, nowadays there are practically no people with an absolutely...
In childhood, many of us dreamed of learning to jump high. Now, after years, it became easier - Kangoo Jumps has appeared. This is one of the relatively new, but quickly gaining popularity types of fitness training. There are several advantages of jumpers. ...