sulfite oxidase deficiency

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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.