1. Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency
- Author
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Carolina Gutiérrez Junquera, Moisés Sorli, Isabel Cuartero, Begoña Merinero, Esther Gil, Andrés Martínez, Elena Balmaseda, and Magdalena Ugarte
- Subjects
Proband ,medicine.medical_specialty ,HELLP syndrome ,Gene Expression ,Hepatic Complication ,Acute fatty liver of pregnancy ,Pregnancy ,Internal medicine ,medicine ,Humans ,Blood Transfusion ,Beta oxidation ,Alleles ,Ultrasonography ,business.industry ,Hypoketotic hypoglycemia ,3-Hydroxyacyl CoA Dehydrogenases ,Infant ,medicine.disease ,Fatty Liver ,Pregnancy Complications ,Endocrinology ,Pediatrics, Perinatology and Child Health ,Acute Disease ,Gestation ,Female ,business ,Cardiomyopathies ,Metabolism, Inborn Errors - Abstract
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.
- Published
- 2007