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JBR-BTR ; 97(2): 113-4, 2014.
Article in English | MEDLINE | ID: mdl-25073245

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


Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Sulfite Oxidase/deficiency , Amino Acid Metabolism, Inborn Errors/blood , Amino Acid Metabolism, Inborn Errors/urine , Brain/pathology , Cysteine/analogs & derivatives , Cysteine/urine , Diagnosis, Differential , Echoencephalography/methods , Electroencephalography/methods , Female , Homocysteine/blood , Humans , Hypoxanthine/urine , Infant, Newborn , Magnetic Resonance Imaging/methods , Rare Diseases , Sulfite Oxidase/blood , Sulfite Oxidase/urine , Sulfites/urine , Taurine/urine , Xanthine/urine
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