Application | Comment | Organism |
---|---|---|
medicine | magnetic resonance imaging and magnetic resonance spectroscopy measurements may help differentiate isolated sulfite oxidase deficiency from hypoxic-ischemic condition in patients in whom this diagnosis is not clinically suspected and may lead to further genetic antenatal inquiry that may prevent the birth of other infants affected with this severe and incurable congenital disease | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | isolated sulfite oxidase deficiency, extensive brain damage in the gray matter and more pronounced damage in the white matter, without subsequent recovery. Early onset of energetic and metabolic imbalance. Impaired energetic status and accumulated metabolites | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P51687 | three patients with isolated sulfite oxidase deficiency, who manifested intractable seizures and severe hypotonia in the immediate postnatal period with an unknown diagnosis, despite extensive workup | - |
Synonyms | Comment | Organism |
---|---|---|
SUOX | - |
Homo sapiens |