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Overview

This disease is also called Gargoylism, Hurler Disease, MPS Disorder I. There are also disorder subdivisions such as Hurler Syndrome (MPS IH), Hurler-Scheie Syndrome (MPS IH/S) and Scheie Syndrome (MPS IS).

MPS Disorders are rare genetic disorders. Mucopolysaccharidoses (MPS) and Mucolipidoses (ML) are genetic lysosomal storage disorders caused by the body’s inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle cells after the cells die. In this disorder, the missing or insufficient enzyme prevents the normal breakdown and recycling of cells resulting in the storage of these cell deposits in just about every cell of the body. Because of this, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell deposits.

The most severe form of MPS I is called Hurler syndrome. It was named after Gertrund Hurler, a physician who first described it in 1919. In 1962, Dr. Scheie, a consultant ophthalmologist, wrote about some of his patients who were more mildly affected. This milder form of MPS I is called Scheie syndrome. Patients who seem not to fit clearly in either the severe or the mild end of the disorder are said to have Hurler/Scheie.

Cause
MPS is hereditary. In nearly all cases a child receives a recessive gene from each parent. A couple’s chance of having another child with one of these disorders is 1 in 4 with each pregnancy. Unaffected siblings may be gene carriers of the disorder. Amniocentesis can be performed between 14 and 17 weeks gestation to determine if the unborn child is affected. Alternatively, chorionic villus sampling (CVS) can be performed between eight and ten weeks of pregnancy. Tests also are available to determine whether individuals are carriers of an MPS disorder.

Symptoms
While the symptoms of the diseases may vary from one syndrome to another, there are similarities. Affected individuals may have mental retardation, cloudy corneas, short stature, stiff joints, incontinence, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain and a dramatically shortened life span.

Treatment
There is no magic cure for MPS disorders, but there are ways of managing and treating the problems they cause.

Research
Although there is currently no cure for MPS disorders, research is making great strides. Carrier detection, the development of replacement enzymes, and the possibility of gene therapy, are among today’s research themes and treatment options. Bone marrow transplantation has been considered successful for many, though relatively few individuals qualify for this high-risk procedure. Major advancements in research has been made thanks to the fundraising efforts of the MPS Society and its members. www.mpssociety.org

Resources
Information from:
National Organization for Rare Disorders http://www.rarediseases.org
MPS Society http://www.mpssociety.org