title: Sulfite oxidase deficiency in a newborn.
abstract: Isolated sulfite oxidase deficiency is a rare, autosomal recessive disease with a very poor prognosis. This condition usually presents in the neonatal period and is mainly characterized by neurological abnormalities, including refractory seizures, abnormal muscle tone, abnormal movements, and marked developmental delay. The differentiation from hypoxic-ischemic encephalopathy is difficult based on clinical findings alone. We present a neonatal case
authors: H
authors: H
authors: Westerlinck
authors: L
authors: L
authors: Meylaerts
authors: M R
authors: MR
authors: Van Hoestenberghe
authors: A
authors: A
authors: Rossi
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D001921:Brain / Q000473:pathology; D003545:Cysteine / Q000031:analogs & derivatives / Q000652:urine; D003937:Diagnosis, Differential; D004453:Echoencephalography / Q000379:methods; D004569:Electroencephalography / Q000379:methods; D005260:Female; D006710:Homocysteine / Q000097:blood; D006801:Humans; D019271:Hypoxanthine / Q000652:urine; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods; D035583:Rare Diseases; D050876:Sulfite Oxidase / Q000097:blood / Q000172:deficiency* / Q000652:urine; D013447:Sulfites / Q000652:urine; D013654:Taurine / Q000652:urine; D019820:Xanthine / Q000652:urine
chemical_list: D013447:Sulfites; D006710:Homocysteine; D019820:Xanthine; D013654:Taurine; D019271:Hypoxanthine; C011119:S-sulphocysteine; D050876:Sulfite Oxidase; D003545:Cysteine