Article
Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele.
Pediatric research - 1 Sept 1996
Isaacs J D, Sims H F, Powell C K, Bennett M J, Hale D E, Treem W R, Strauss A W
Abstract excerpt
Acute fatty liver of pregnancy (AFLP) is a devastating late gestational complication with many similarities to the inherited disorders of mitochondrial fatty acid oxidation. We report the molecular defects in a woman with AFLP and her infant who subsequently was diagnosed with trifunctional prote...
Topics
- 3-Hydroxyacyl CoA Dehydrogenases
- Acute Disease
- Adult
- Alleles
- Exons
- Fatty Liver
- Female
- Fetal Proteins
- Humans
- Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
- Mitochondrial Trifunctional Protein
- Multienzyme Complexes
- Mutation
- Nucleic Acid Hybridization
- Oligonucleotide Probes