Screening of a clinically and biochemically diagnosed SOD patient using exome sequencing: a case report with a mutations/variations analysis approach

ABSTRACT

Background: Sulfite oxidase deficiency [SOD] is a rare neurometabolic inherited disorder causing severe delay in developmental stages and premature death. The disease follows an autosomal recessive pattern of inheritance and causes deficiency in the activity of sulfite oxidase, an enzyme that normally catalyzes conversion of sulfite to sulfate