Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening.
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.
Marble
Michael
M
Department of Pediatrics, Division of Clinical Genetics, Louisiana State University Health Sciences Center, Children's Hospital of New Orleans, New Orleans, LA, USA. mmarbl1@lsuhsc.edu
Copeland
Sara
S
Khanfar
Nashat
N
Rosenblatt
David S
DS
D000752:Anemia, Pernicious / Q000150:complications; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000209:etiology; D014806:Vitamin B 12 Deficiency / Q000097:blood / Q000175:diagnosis* / Q000209:etiology
C003223:propionylcarnitine; D002331:Carnitine