Journal
JOURNAL OF PEDIATRICS
Volume 152, Issue 5, Pages 731-733Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2008.01.023
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A neonate with elevated propionylearnitine on the newborn screen was found to have methvlmalonic acidemia due to vitamin B-12-deficiency. The mother was also vitamin B,,-deficient. This case illustrates the utility of expanded newborn screening for detection of vitamin B,, deficiency, allowing prompt treatment and prevention of potential sequelae.
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