sulfite oxidase deficiency

sulfite oxidase deficiency

A rare autosomal recessive condition (OMIM:272300) characterised by neurologic defects, such as multicystic leukoencephalopathy with brain atrophy, seizures, generalised dystonia and choreoathetosis, as well as minimal development of language and death in infancy. 

Molecular pathology
Caused by defects of SUOX, which encodes sulfite oxidase, an enzyme that catalyses the oxidative degradation of the sulfur amino acids cysteine and methionine.
References in periodicals archive ?
Structural analysis of missense mutations causing isolated sulfite oxidase deficiency. Dalton Trans.
Differential diagnoses of ectopia lentis also include trauma, syphilis, sulfite oxidase deficiency, and Weill--Marchesani syndrome.
Sulfite is detoxified in the liver and lung to sulfate by sulfite oxidase, a molybdenum-dependent mitochondrial enzyme (Cohen and Fridovich 1971); sulfite oxidase deficiency is one of the most accepted causes of sulfite hypersensitivity and toxicity.
One reason for the toxic potential of (bi)sulfite is a deficiency of sulfite oxidase, the molybdenum-containing enzyme that oxidizes sulfite to sulfate (S[O.sub.4.sup.2-]), and it is noteworthy that in cases of sulfite oxidase deficiency, the concentration of sulfite in plasma is abnormal (> 1 mM) (Acosta et al.
Sulfite oxidase deficiency is so rare, only 16 cases have ever been found worldwide.
Sulfite oxidase deficiency: a high risk factor in S02, sulfite, and bisulfite toxicity?
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.