Congenital deficiency of alpha-fetoprotein.
Although alpha-fetoprotein may play a role in fetal immune function or in maintenance of osmotic pressure, its exact function is unknown. We report two infants documented to have congenital deficiency of alpha-fetoprotein. One infant had cord blood levels less than 0.5 ng/ml. The second infant had a neonatal level of 120 ng/ml, which is about 2% of the usual concentration for a term newborn. These infants document the existence of congenital deficiency of serum alpha-fetoprotein. Because it is homologous to albumin, congenital deficiency of alpha-fetoprotein may be analogous to analbuminemia, a benign genetic trait.
Greenberg
F
F
Institute for Molecular Genetics, Houston, TX 77030.
Faucett
A
A
Rose
E
E
Bancalari
L
L
Kardon
N B
NB
Mizejewski
G
G
Haddow
J E
JE
Alpert
E
E
D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors; D009994:Osmolar Concentration; D011247:Pregnancy / Q000097:blood; D011256:Pregnancy Outcome; D000509:alpha-Fetoproteins / Q000032:analysis / Q000172:deficiency*
D000509:alpha-Fetoproteins