Summary:
Principles of Peri-mortem Investigation of Inherited Metabolic Disorders
Several inherited metabolic diseases might cause a sudden death of a child, rarely of an adolescent or an adults. Disorders include gluconeogenesis and ketogenesis defects, organic acidurias, fructose intolerance, urea cycle disorders and mitochondriopathies, namely fatty acid transport and oxidation defects. Recommended protocol for material collection and the type of proposed investigation is given. A list of diseases, diagnosed post-mortem, is presented.
Key words:
inherited metabolic disorders, sudden death, peri-mortem investigation
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