Fatty acid oxidation disorders and acute fatty liver of pregnancy- is it always the LCHAD deficiency 1528G>C variant?

Sarah Araji,Dante Varotsis,Brian Kirmse,Huda Al-Kouatly

Genetics in Medicine（2022）

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摘要

An association between long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and acute fatty liver of pregnancy (AFLP) has been demonstrated in many reports. The most common variant in clinical observations is the 1528G>C. Our goal was to evaluate the different fetal/neonatal mitochondrial fatty acid oxidation (FAO) genetic variants associated with AFLP in the literature.

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