Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient.
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.
Schiaffino
M C
MC
University Department of Pediatrics, G Gaslini Institute, Genoa, Italy. cristinaschiaffino@ospedale-gaslini.ge.it
Fantasia
A R
AR
Minniti
G
G
Caruso
U
U
Carnevale
F
F
Cerone
R
R
D001049:Apnea / Q000209:etiology*; D003490:Cyanosis / Q000209:etiology; D004678:Encephalomalacia / Q000175:diagnosis / Q000209:etiology*; D004830:Epilepsy, Tonic-Clonic / Q000209:etiology*; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism*; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency*; D014556:Urine / Q000737:chemistry
D050862:Oxidoreductases Acting on Sulfur Group Donors