title: Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.
abstract: Acute fatty liver of pregnancy (AFLP) is a devastating disorder of the maternal liver in the third trimester. Recent studies have demonstrated an association between AFLP and fetal fatty acid oxidation disorders. Here, we report a case of AFLP caused by fetal mitochondrial trifunctional protein (TFP) deficiency. A 21-year-old parous woman presented with nausea, genital bleeding and abdominal pain at 33 weeks of gestation. Laboratory data revealed hepatic failure and disseminated intravascular coagulopathy. The patient underwent emergency cesarean section and was diagnosed with AFLP from the clinical characteristics. She was successfully treated with frequent plasma exchange. The newborn presented severe heart failure and died on the 39th day after birth. Tandem mass spectrometry indicated long-chain fatty acid oxidation disorder. Gene analysis demonstrated homozygous mutation in exon 13 of HADHB, the gene responsible for mitochondrial TFP deficiency. The parents carried a heterozygous mutation at the same location in HADHB.
authors.affiliation: Department of Obstetrics and Gynecology, Wakayama Medical University, Wakayama, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Kobayashi
authors.forename: Sawako
authors.initials: S
authors.lastname: Minami
authors.forename: Ayuki
authors.initials: A
authors.lastname: Mitani
authors.forename: Yuko
authors.initials: Y
authors.lastname: Tanizaki
authors.forename: Mina
authors.initials: M
authors.lastname: Booka
authors.forename: Takahiro
authors.initials: T
authors.lastname: Okutani
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Ino
mesh_terms: D009202:Cardiomyopathies / Q000150:complications* / Q000235:genetics; D017809:Fatal Outcome; D005234:Fatty Liver / Q000209:etiology* / Q000628:therapy; D005260:Female; D006333:Heart Failure / Q000150:complications* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000235:genetics; D063991:Mitochondrial Trifunctional Protein / Q000172:deficiency* / Q000235:genetics; D063993:Mitochondrial Trifunctional Protein, beta Subunit / Q000235:genetics; D009154:Mutation; D009422:Nervous System Diseases / Q000150:complications* / Q000235:genetics; D010951:Plasma Exchange; D011247:Pregnancy; D011248:Pregnancy Complications / Q000209:etiology* / Q000628:therapy; D012206:Rhabdomyolysis / Q000150:complications* / Q000235:genetics; D055815:Young Adult
chemical_list: C576206:HADHB protein, human; D063991:Mitochondrial Trifunctional Protein; D063993:Mitochondrial Trifunctional Protein, beta Subunit
keywords: acute fatty liver of pregnancy; coagulopathy; fatty acid oxidation disorder; gene analysis; mitochondrial trifunctional protein deficiency