Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency.

ABSTRACT: Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disorder belonging to the large family of inborn errors in metabolism. Patients typically present with encephalopathy and seizures early after birth and develop severe neurodegeneration within the first few weeks of life. The main pathomechanism underlying MoCD is the loss of function of sulfite oxidase (SO), a molybdenum cofactor (Moco) dependent enzyme located in mitochondrial intermembrane space. SO catalyzes the oxidation of sulfite (SO₃ ^2-) to sulfate (SO₄ ^2-) in the terminal reaction of cysteine catabolism, and in the absence of its activity, sulfurous compounds such as SO₃ ^2-, S-sulfocysteine, and thiosulfate accumulate in patients. Despite growing eviden

SUBMITTER: Mellis AT 

PROVIDER: S-EPMC7817995 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature