Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.8.3.1 extracted from

  • Hoffmann, C.; Ben-Zeev, B.; Anikster, Y.; Nissenkorn, A.; Brand, N.; Kuint, J.; Kushnir, T.
    Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency (2007), J. Child Neurol., 22, 1214-1221.
    View publication on PubMed

Application

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

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

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

Synonyms Comment Organism
SUOX
-
Homo sapiens