Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient
M C Schiaffino1, A R Fantasia, G Minniti
1University Department of Pediatrics, G Gaslini Institute, Genoa, Italy. cristinaschiaffino@ospedale-gaslini.ge.it
Journal of Inherited Metabolic Disease
|April 7, 2004
Abstract:
A patient with isolated sulphite oxidase deficiency presented with seizures at 12 h of life and followed a severe course, dying at 10 months of age. There was mild facial dysmorphism and the brain showed multiple cystic fibrosis.

