A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death.
We report a perinatal death due to medium-chain acyl-CoA dehydrogenase deficiency, which was referred to the Coroner's Physician as sudden unexplained infant death. Detailed death investigation including the autopsy findings, and newborn biochemical and molecular studies revealed the cause and natural manner of death. This disorder affects fatty acid oxidation and results in decreased tolerance for fasting, which can be life threatening. This case illustrates the critical role of newborn screening in the investigation of perinatal death. A brief historical perspective of the origins of newborn biochemical screening is also presented.
Manoukian
Anthony A
AA
Clinical Laboratories of Hawaii, Inc, Department of Pathology, John A. Burns School of Medicine, Honolulu, Hawaii. Anthony.Manoukian@Hawaiilabs.com
Ha
Chung-Eun
CE
Seaver
Laurie H
LH
Bhagavan
Nadhipuram V
NV
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D015997:Neonatal Screening; D017354:Point Mutation; D013398:Sudden Infant Death / Q000209:etiology*
C116917:acylcarnitine; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine