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Friday, Jan 09, 2009 | 01:58 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
Sulfite Oxidase Deficiency
Sulfocysteinuria;Molybdenum Cofactor Deficiency
Monday, 15 August 2005
Last Updated Monday, 15 August 2005
What
Sulfite Oxidase Deficiency is an inherited metabolic disease that results from a deficiency of sulfite oxidase, an enzyme necessary for the metabolism (breakdown) of sulfur-containing proteins in our body. Children with this disease accumulate sulfites in their body and often have problems with their eyes, abnormal movements, muscles problems, and severe neurologic deficits.Who
There have been less than 50 cases reported world-wide of this disease, for it is extremely rare. It appears to occur equally in different ethnic groups, but it is difficult to say for certain because the number of cases is too small. It seems that the disease is present equally in boys and girls.Signs and Symptoms
Children with sulfite oxidase deficiency have signs and symptoms of this disease early, often within the first few months of life. • Eating: some children will have feeding difficulty. • Muscles: some have decreased muscle tone in the trunk and increased muscle tone in the arms and legs. Others have respiratory difficulty. • Eyes: Most children with sulfite oxidase deficiency have displaced lens that can lead to vision problems. • Brain: Some children will have seizures very early on. As the children grow older, almost all of them will have some form of brain degeneration, leading to an inability to move or abnormal dance-like movements of the arms and legs (choreoathetosis), and severe neurologic deficits like profound mental retardation.Possible Causes
This disease is inherited in an autosomal recessive manner, meaning that an affected child received a mutated copy of the gene responsible for this disorder from each parent. The gene responsible for this disorder is located on chromosome 12 and normally makes an enzyme called sulfite oxidase that metabolizes (breaks down) proteins that contain sulfur. Each parent would be a carrier of the gene for sulfite oxidase deficiency but not have symptoms; they would have one copy of the gene with a genetic change (mutation) and a second copy that functions normally.Diagnosis
Analysis of the urine for excess sulfite is necessary for the diagnosis of this disease. There is prenatal screening available through chorionic villous sampling of sulfite oxidase activity.Treatment
At present, there is no cure or treatment for the disease. There is some hope, however, since researchers have developed a special diet that seemed to help 2 patients with sulfite oxidase deficiency. The neurologic deterioration seemed to have slowed down after this diet. This diet needs to be worked out amongst specialists, but it consists of low amount of proteins from natural foods and supplements of synthetic amino acids without cysteine or methionine (amino acids that carry sulfur).Prognosis
Most children with sulfite oxidase deficiency have died within the first decade of their lives. However, researchers are working hard to improve and implement the special diet that seems to promise alleviation of some of the symptoms of the disease.Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
CLIMB. Children Living with Inherited Metabolic Diseases
Provides advice, information and support to families affected by metabolic diseases.
Genetic Alliance
Website has information on many genetic diseases as well as various projects to connect people through online forums and emails, information on upcoming events related to different genetic diseases. Has information in Spanish.
OMNI . Website has many links to other sites with information on inborn errors of metabolism.