Sulfite oxidase deficiency is a genetic disorder where the body does not have enough sulfite oxidase enzyme. An enzyme is a chemical in the body that helps to breakdown or build other chemicals in the body. In this condition the body cannot breakdown sulfur containing amino acids. Amino acids are important chemical building blocks in the body. The main symptoms of this condition include seizures, muscle weakness, an intense startle response, problems with the eyes, and muscle spasms of the head, neck, and back. Most children also experience intellectual disabilities. Individuals may also have certain facial characteristics including a narrow forehead and deep-set eyes. Sulfite oxidase deficiency usually presents during infancy or early childhood, and most individuals do not live past childhood.
A change (mutation) in SUOX, MOCS1, MOCS2, or GEPH genes has been linked to sulfite oxidase deficiency. This condition is inherited (passed through families) in an autosomal recessive manner. Autosomal recessive means that an individual must have two mutations in order to have the condition. A person with only one mutation is called a carrier because they “carry” a mutation but do not have the condition. If both parents are carriers of a mutation, their children have a one in four chance (25%) of having the condition.
Sulfite oxidase deficiency is diagnosed shortly after birth by physical exam, urine tests looking at levels of amino acids in the blood, and by taking skin cell samples. There is currently no cure for the condition, but drugs may be given to help with seizures, and diets can be changed to help improve amino acid levels. If you or a family member has been diagnosed with sulfite oxidase deficiency, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 18, 2018