Sulphite Oxidase Deficiency

What is Sulphite Oxidase Deficiency?

Sulphite Oxidase deficiency is a rare inherited disorder affecting sulphite metabolism resulting in severe neurological dysfunction, mental retardation and lens dislocation. A clinically mild form is treatable with diet. Protein requirements are met by supplementing the diet with a cystine and methionine free amino acid mixture, in conjunction with a low methionine and cystine diet.

Bibliography

Touati G, Rusthoven E, Depondt E, et al. Dietary Therapy in two patients with a mild form of Sulphite Oxidase Deficiency. Evidence for clinical and biological improvement. J. Inher. Metab. Dis. 2000;23:45-53.

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