Clinical Chemistry
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Clinical Chemistry 47: 1145-1146, 2001;
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(Clinical Chemistry. 2001;47:1145-1146.)
© 2001 American Association for Clinical Chemistry, Inc.

Editorial

The Metabolic Autopsy Comes of Age

Michael J. Bennett1a and Piero Rinaldo2

1 Department of Pathology University of Texas Southwestern Medical Center at Dallas Children’ Medical Center of Dallas 1935 Motor St. Dallas, TX 75235

2 Biochemical Genetics Laboratory Division of Laboratory Medicine & Pathology Mayo Clinic and Foundation Rochester, MN 55905


aAuthor for correspondence. E-mail michaelj.bennett@email.swmed.edu.

The concept of sudden infant death syndrome (SIDS) was introduced in the early 1970s in an attempt to categorize death in a group of infants who died suddenly and unexpectedly and in whom a thorough postmortem investigation failed to provide a credible diagnosis (1) The diagnosis of SIDS or sudden unexpected death in early life, which encompasses a greater number of cases, remains the largest single cause of death in children in the industrialized nations. The reported frequency is ~1:1000 live births, a figure that represents 25% of all deaths in the first year of life.

In the beginning, the first clue that a subset of these infants may have a metabolic derangement came from the pioneering autopsy studies of Professor John Emery (2) By investigating 200 infants who were initially given the diagnosis of SIDS, Emery recognized that 5% of them had diffuse fatty change of the liver. It was suggested that these children had been in some state of metabolic "poisoning" or had suffered an acute metabolic decompensation such as that seen in Reye syndrome. The first factual diagnosis of an inborn error of metabolism in an infant initially classified as SIDS was made in 1984 (3) A 14-month-old infant who died suddenly after a 48-h history of nonspecific malaise, was found at autopsy to have diffuse fatty changes to viscera, and was . . . [Full Text of this Article]


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More on the Metabolic Autopsy
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