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 ?
If this surmise is true, it would illustrate that not all sulfite oxidase deficiency is the result of a fatal genetic mutation, as published.
Structural analysis of missense mutations causing isolated sulfite oxidase deficiency.
Differential diagnoses of ectopia lentis also include trauma, syphilis, sulfite oxidase deficiency, and Weill--Marchesani syndrome.
The differential diagnosis of lens dislocation includes trauma, syphilis, Marfan syndrome, Weil-Marchesani syndrome, sulfite oxidase deficiency, and homocystinuria.
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.
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 is caused by a defective gene.
Currently, there is virtually no medical research into sulfite oxidase deficiency.
Hyperlysinemia, sulfite oxidase deficiency, xanthine oxidase deficiency, and Ehlers-Danlos syndrome are other conditions in which ectopia lentis may also be seen in association with a variety of systemic abnormalities.