Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency.
Isolated sulfite oxidase deficiency is a rare autosomal recessive disorder of the newborn that can be mistaken for neonatal asphyxia. Diffusion-weighted imaging of the brain demonstrates widespread diffusion restriction, and proton magnetic resonance spectroscopy shows an elevated lactate level, a decrease in the ratio of N-acetylaspartate to creatine, and a rise in the ratio of choline to creatine. This precedes severe cystic encephalomalacia and suggests that the energy failure associated with neuronal dysfunction and myelin disintegration occurs early in isolated sulfite oxidase deficiency.
Eichler
Florian
F
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.
Tan
Wen-Hann
WH
Shih
Vivian E
VE
Grant
P Ellen
PE
Krishnamoorthy
Kalpathy
K
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D003937:Diagnosis, Differential; D038524:Diffusion Magnetic Resonance Imaging; D004569:Electroencephalography; D017353:Gene Deletion; D006801:Humans; D020925:Hypoxia-Ischemia, Brain / Q000175:diagnosis; D007223:Infant; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D012640:Seizures / Q000201:enzymology / Q000209:etiology; D050876:Sulfite Oxidase / Q000172:deficiency* / Q000235:genetics
D050876:Sulfite Oxidase