Article
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
European journal of pediatrics - 1 Jan 2009
Gutiérrez Junquera Carolina, Balmaseda Elena, Gil Esther, Martínez Andrés, Sorli Moisés, Cuartero Isabel, Merinero Begoña, Ugarte Magdalena
Abstract excerpt
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...
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