SUOX

At least 27 SUOX gene mutations have been identified in people with isolated sulfite oxidase deficiency (ISOD), a severe disorder that causes brain damage and is generally fatal in the first months or years of life. The SUOX gene mutations that cause ISOD impair the function of sulfite oxidase, preventing complete breakdown of sulfur-containing amino acids. As a result, sulfites and other compounds left over from the partial breakdown process abnormally accumulate in the body. Researchers suggest that the nervous system is especially sensitive to this abnormal accumulation, and excessive levels of sulfite compounds that are toxic to the brain are thought to result in the brain damage that occurs in ISOD.

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