A case of glutaric acidemia type II (severe multiple acyl-CoA dehydrogenation disorder) with subsequent prenatal exclusion in a sibling.
A case of severe multiple acyl-CoA dehydrogenation disorder is described. This is the second such case reported to have had an elevated maternal serum alpha-fetoprotein and normal amniotic alpha-fetoprotein. The child's 3-day extrauterine life was characterized by intractable acidosis, respiratory distress, and ventricular fibrillation. The characteristic biochemical, morphologic, and microscopic findings of this condition are reviewed. A subsequent pregnancy was evaluated using chorionic villus sampling and analysis of cultured trophoblasts. The trophoblasts were biochemically normal, and a normal child was subsequently delivered. Since the manifestations of this disorder developed in utero, prenatal diagnosis and therapy offer the only hope for a more prolonged survival.
Medlock
M D
MD
Department of Pediatrics, Orlando Regional Medical Center, Florida.
Rhead
W J
WJ
Pollack
L
L
Meredith
J T
JT
Pearl
G
G
Reece
C
C
D000138:Acidosis / Q000473:pathology; D002543:Cerebral Hemorrhage / Q000473:pathology; D044927:Electron-Transferring Flavoproteins; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005315:Fetal Diseases / Q000175:diagnosis; D005977:Glutarates / Q000097:blood*; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007506:Iron-Sulfur Proteins; D008297:Male; D009097:Multienzyme Complexes / Q000172:deficiency*; D000587:Oxidoreductases Acting on CH-NH Group Donors; D007690:Polycystic Kidney Diseases / Q000473:pathology; D011296:Prenatal Diagnosis
D044927:Electron-Transferring Flavoproteins; D005977:Glutarates; D007506:Iron-Sulfur Proteins; D009097:Multienzyme Complexes; D044943:Fatty Acid Desaturases; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; C035736:glutaric acid