The Metabolic Autopsy

In cases which come to autopsy with the question of an undiagnosed metabolic disorder, it is important to collect sufficient quantity of specimens for additional studies, both for resolution of the case and for the sake of the family which might have a risk of recurrence.  The following table is adapted from the protocol published by specialists at Children's Hospital of Philadelphia (Ernst LM, Sondheimer N, Deardorff MA, Bennett MJ, Pawel BR. The value of the metabolic autopsy in the pediatric hospital setting. J Pediatr. 2006 Jun;148(6):779-83.  PMID: 16769386)

Tissue Test 
Tissue* snap-frozen in liquid nitrogen, stored at ‑70C Enzymatic studies
       Tricarboxylic acid cycle and electron transport chain complexes by spectrophotometry
Tissue* in glutaraldehyde Electron microscopy
Plasma Amino acids
       Ion exchange chromatography
Acylcarnitines
       Tandem mass spectrometry
Blood Chromosomes
DNA extraction
Urine Organic acids
       Gas chromatography mass spectrometry
Amino acids
       Ion exchange chromatography
Acylcarnitines
       Tandem mass spectrometry
Vitreous fluid Organic acids
       Gas chromatography mass spectrometry
Bile Acylcarnitines
       Tandem mass spectrometry
Skin Fibroblast culture
*Tissue _ liver, skeletal muscle, cardiac muscle, kidney, brain.