What causes sulfite oxidase deficiency?

Isolated sulfite oxidase deficiency is caused by a mutation in the SUOX gene (12q13. 13) (see this term). The SUOX gene encodes the enzyme sulfite oxidase which catalyzes sulfite to sulfate, a process essential for the catabolism of sulfur-containing amino acids.

What is isolated sulfite oxidase deficiency?

Isolated sulfite oxidase deficiency (ISOD) is a disorder of the nervous system, with a severe “classic” form that starts in the newborn period and a milder, late-onset form that begins later in infancy or early childhood.

How do you test for molybdenum cofactor deficiency?

Diagnostic laboratory testing for both molybdenum cofactor deficiency (MCD) and isolated sulfite oxidase deficiency involves urine analysis for S-sulfocysteine. The finding of low or nondetectable serum uric acid levels may suggest the diagnosis of MCD but is not always a reliable indicator.

Is sulfite oxidase deficiency genetic?

Isolated sulfite oxidase deficiency (ISOD) is inherited in an autosomal recessive manner.

Can you test for sulfite oxidase?

Molecular testing of the known genes is available for diagnosis confirmation. However, in the acute phase, a diagnosis of sulfite oxidase deficiency is generally based on the presence or absence of physical findings and characteristic metabolites.

Can sulfites cause seizures?

The toxic effects of sulfites can trigger allergic reactions. Symptoms of sulfite sensitivity include asthma, hives, tissue swelling, abdominal pain, nausea, diarrhea, seizures and shock resulting in death.

What is xanthine oxidase deficiency?

Definition. Xanthine oxidase (xanthine dehydrogenase) deficiency, type I, is an uncommon autosomal recessive disorder characterized by the excretion of urinary xanthine and hypoxanthine as the chief end products of purine metabolism, and by low serum and urinary uric acid levels.

How do you fix molybdenum deficiency?

Liming to bring pH above 5.5 usually fixes molybdenum deficiency in the long term. Applying a molybdenum fertiliser can correct molybdenum deficiency symptoms in plants more quickly.

What is molybdenum deficiency?

Molybdenum deficiency refers to the clinical consequences of inadequate supplies of molybdenum in the diet. The amount of molybdenum required is relatively small, and molybdenum deficiency usually does not occur in natural settings. However, it can occur in individuals receiving parenteral nutrition.

When does isolated sulfite oxidase deficiency start?

How are methionine and cysteine metabolized to sulfite and sulfate?

Methionine and cysteine normally are metabolized to sulfite and then are oxidized to sulfate by the enzyme sulfite oxidase (see the image below). Sulfite oxidase deficiency and molybdenum cofactor deficiency in the metabolism of sulfated amino acids.

What happens when molybdenum cofactor is deficient?

Sulfite oxidase deficiency and molybdenum cofactor deficiency in the metabolism of sulfated amino acids. When sulfite oxidase is deficient, alternate metabolic pathways for sulfite are augmented, including formation of metabolites s-sulfocysteine and thiosulfate. S-sulfocysteine probably substitutes for cysteine in connective tissues.

Where is the sulfite oxidase located in the mitochondrial space?

Sulfite oxidase is located in the mitochondrial intermembranous space and is involved in electron transport. It leads to oxidation of sulfite to sulfate. [ 2] The enzyme sulfite oxidase depends on the molybdenum-containing pterin cofactor, as do the enzymes xanthine dehydrogenase and aldehyde oxidase.

What causes sulfite oxidase deficiency? Isolated sulfite oxidase deficiency is caused by a mutation in the SUOX gene (12q13. 13) (see this term). The SUOX gene encodes the enzyme sulfite oxidase which catalyzes sulfite to sulfate, a process essential for the catabolism of sulfur-containing amino acids. What is isolated sulfite oxidase deficiency? Isolated sulfite oxidase…