Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency.
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare disorder of ketone body catabolism. In the present study, we prenatally diagnosed SCOT deficiency in a fetus in a family of which the proband was the first patient with SCOT deficiency identified in Japan, by analysis of enzyme activity levels in samples of chorionic villi and cultured amniocytes. In the fetus of the family, SCOT activity was not detected in either chorionic villi or cultured amniocytes. Since the levels of SCOT activity in control chorionic villi were close to our minimal detectable level and were much lower than those in control cultured amniocytes, enzyme assay in cultured amniocytes was more feasible than that in chorionic villi for prenatal diagnosis of SCOT deficiency. No elevated accumulation of 3-hydroxybutyrate or acetoacetate was detected in the amniotic fluid of the fetus. To our knowledge, this report is the first of prenatal diagnosis of SCOT deficiency.
Fukao
T
T
Department of Pediatrics, Gifu University School of Medicine, Japan.
Song
X Q
XQ
Watanabe
H
H
Hirayama
K
K
Sakazaki
H
H
Shintaku
H
H
Imanaka
M
M
Orii
T
T
Kondo
N
N
D020155:3-Hydroxybutyric Acid; D000090:Acetoacetates / Q000032:analysis; D000101:Acetyl-CoA C-Acetyltransferase / Q000032:analysis; D000649:Amniocentesis / Q000592:standards; D000653:Amniotic Fluid / Q000737:chemistry / Q000166:cytology; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D015256:Coenzyme A-Transferases / Q000032:analysis / Q000172:deficiency*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000196:embryology; D005347:Fibroblasts / Q000201:enzymology; D008401:Gas Chromatography-Mass Spectrometry; D005865:Gestational Age; D006801:Humans; D006885:Hydroxybutyrates / Q000032:analysis; D007564:Japan; D007657:Ketone Bodies / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000196:embryology; D011247:Pregnancy; D012015:Reference Standards
D000090:Acetoacetates; D006885:Hydroxybutyrates; D007657:Ketone Bodies; C016635:acetoacetic acid; D000101:Acetyl-CoA C-Acetyltransferase; D015256:Coenzyme A-Transferases; C021460:3-ketoacid CoA-transferase; D020155:3-Hydroxybutyric Acid