Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.
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.
Basheer
S N
SN
Division of Neurology, British Columbia's Children's Hospital, Vancouver, Canada. sn.basheer@hey.nhs.uk
Waters
P J
PJ
Lam
C W
CW
Acquaviva-Bourdain
C
C
Hendson
G
G
Poskitt
K
K
Hukin
J
J
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*
D006710:Homocysteine; D019344:Lactic Acid; D050876:Sulfite Oxidase