Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
Here we report a 7-month-old girl with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency with hypoketotic hypoglycemia; the mother had a history of acute fatty liver in a previous pregnancy leading to fetal death at 34 weeks of gestation. The misense mutation 1528G > C was detected in both alleles in the proband and in one allele in both parents. We emphasize that screening for fatty acid oxidation disorders and specifically LCHAD deficiency should be performed in newborns from mothers with hepatic complications during pregnancy such as acute fatty liver of pregnancy or severe or recurrent HELLP syndrome.
Gutiérrez Junquera
Carolina
C
Servicio de Pediatría, Complejo Hospitalario Universitario de Albacete, Universidad de Castilla La-Mancha, Albacete, Spain. cgutierrezj@telefonica.net
Balmaseda
Elena
E
Gil
Esther
E
Martínez
Andrés
A
Sorli
Moisés
M
Cuartero
Isabel
I
Merinero
Begoña
B
Ugarte
Magdalena
M
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D000208:Acute Disease; D000483:Alleles; D001803:Blood Transfusion; D009202:Cardiomyopathies / Q000000981:diagnostic imaging; D005234:Fatty Liver / Q000175:diagnosis*; D005260:Female; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D011247:Pregnancy; D011248:Pregnancy Complications; D014463:Ultrasonography
D015094:3-Hydroxyacyl CoA Dehydrogenases