Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
By postmortem biochemical and molecular genetic analyses, an 8-month-old infant was diagnosed with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, an inborn error of mitochondrial fatty acid beta-oxidation. He was born following a pregnancy complicated by a maternal floor infarction of the placenta, a disorder of unknown etiology. We speculate that the child's autosomal recessive fatty acid beta-oxidation disorder and the pregnancy complication are causally related.
Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA. matern@mayo.edu
D
D
Matern
B M
BM
Schehata
P
P
Shekhawa
A W
AW
Strauss
M J
MJ
Bennett
P
P
Rinaldo
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D007238:Infarction / Q000473:pathology; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D008297:Male; D020125:Mutation, Missense; D010920:Placenta / Q000098:blood supply*; D010922:Placenta Diseases / Q000209:etiology* / Q000473:pathology; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy / Q000235:genetics* / Q000378:metabolism*
D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase