Isolated sulfite oxidase deficiency

Journal of Neonatal-perinatal Medicine
B RelinqueS Luna

Abstract

Sulfite oxidase deficiency is an uncommon metabolic disease. Only few cases of its isolated form have been reported in the literature. We report a case of severe neonatal onset. A newborn baby of 41 weeks gestational age, weighted at birth of 3240 grams and had an Apgar score of 6-10-10. Fifty-three hours after being born, the baby started with seizures that were refractory to antiepileptic treatment. Brain function was monitored using a-EEG. Laboratory and imaging tests were performed. All of them were consistent with sulfite oxidase deficiency. The diagnosis was confirmed by genetic testing. We highlight the importance of this disease as part of the differential diagnosis of seizures during the neonatal period, as well as the importance of the therapeutic support based on dietary restrictions. It's also remarkable the possibility of prenatal diagnosis by quantifying enzyme activity and it's also possible carrying out DNA mutational analysis.

References

May 17, 2011·Journal of Child Neurology·Parayil Sankaran BinduRose Dawn Bharath

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Citations

Apr 8, 2016·Current Opinion in Chemical Biology·Guenter Schwarz
Aug 31, 2018·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Waldo Sepulveda, Amy E Wong
Aug 28, 2019·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Waldo Sepulveda
Mar 14, 2018·Trends in Pharmacological Sciences·Bindu D PaulSolomon H Snyder

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