1.
Am J Forensic Med Pathol
; 30(3): 284-6, 2009 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19696588
RESUMO
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.