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.
| Tissue | Test |
| Tissue* snap-frozen in liquid nitrogen, stored at ‑70°C | 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. | |