1.
J Pediatr
; 152(5): 731-3, 2008 May.
Artículo
en Inglés
| MEDLINE
| ID: mdl-18410783
RESUMEN
A neonate with elevated propionylcarnitine on the newborn screen was found to have methylmalonic acidemia due to vitamin B(12) deficiency. The mother was also vitamin B(12)-deficient. This case illustrates the utility of expanded newborn screening for detection of vitamin B(12) deficiency, allowing prompt treatment and prevention of potential sequelae.