title: Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.
abstract: We report a newborn with progressive leukoencephalopathy and lactic acidaemia, diagnosed with isolated sulfite oxidase deficiency. We show that low plasma total homocysteine (PTHcy) is a valuable early indicator of sulfite oxidase dysfunction, providing a crucial first-line screen, whereas plasma cystine is not always informative in the first few days of life.
authors.affiliation: Division of Neurology, British Columbia's Children's Hospital, Vancouver, Canada. sn.basheer@hey.nhs.uk
authors.forename: S N
authors.initials: SN
authors.lastname: Basheer
authors.forename: P J
authors.initials: PJ
authors.lastname: Waters
authors.forename: C W
authors.initials: CW
authors.lastname: Lam
authors.forename: C
authors.initials: C
authors.lastname: Acquaviva-Bourdain
authors.forename: G
authors.initials: G
authors.lastname: Hendson
authors.forename: K
authors.initials: K
authors.lastname: Poskitt
authors.forename: J
authors.initials: J
authors.lastname: Hukin
mesh_terms: D000140:Acidosis, Lactic / Q000097:blood / Q000175:diagnosis* / Q000209:etiology; D001927:Brain Diseases / Q000097:blood / Q000175:diagnosis* / Q000209:etiology; D006710:Homocysteine / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D019344:Lactic Acid / Q000097:blood*; D008297:Male; D050876:Sulfite Oxidase / Q000172:deficiency*
chemical_list: D006710:Homocysteine; D019344:Lactic Acid; D050876:Sulfite Oxidase