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Sulphite Oxidase Deficiency

Sulphite oxidase deficiency is an extremely rare inherited disease in which incorrect ‘metabolism’ or processing of the amino acids methionine and cysteine leads to accumulation of their by-products in the blood and tissues. These products cause severe mental retardation, physical deformities and progressive brain damage.

Amino acids such as methionine and cysteine are the building blocks of proteins. After eating proteins, the body breaks them down into amino acids. Animal proteins include dairy products, meat, eggs and fish. Proteins are also found in plants including soy, legumes, grains and nuts. The body uses the amino acids to make its own proteins essential for life – for example enzymes; structural proteins in muscles, hair, skin, cells and cartilage; proteins that generate movement in muscles; or those involved in cell functioning or immune responses. In periods of fasting or illness, the body often switches to use its own proteins, and stored fats, to generate energy. Methionine is present in both animal and plant proteins, especially sesame seeds, nuts, spinach, mushrooms, broccoli, potatoes, fish and meat. Cysteine is found in most high-protein foods including meat, milk, eggs, red peppers, onions, broccoli and oats.

Sulphite oxidase is an enzyme that resides in the mitochondria, the energy-producing machinery inside cells. The enzyme is required for proper metabolism of methionine and cysteine.

HCP Information for Sulphite Oxidase Deficiency

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