Hepatic carnitine palmitoyltransferase I deficiency presenting as maternalillness in pregnancy

The spectrum of clinical presentation of fatty acid oxidation defects (FAOD ) continues to expand. One FAOD, L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency has been associated with liver disease in pregnancies involving a heterozygous mother carrying an affected fetus. Hepatic carnitine palmito yltransferase (CPT I) deficiency typically presents as a Reye-like syndrome in children between 8 and 18 mo of age. We have investigated a family in w hich the mother developed liver disease consistent with acute fatty liver o f pregnancy (AFLP) and hyperemesis gravidarum in her two successive pregnan cies. Neither child nor their mother was found to carry the common LCHAD G1 528C mutation. Both children were subsequently shown to have absent activit y of CPT I. This is the first report of CPT I deficiency presenting as mate rnal illness in pregnancy.