This user-friendly clinical handbook provides a clear and concise overview of how to recognize and diagnose inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The new edition provides more in-depth coverage on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as well as those on laboratory investigation and treatment.

1 General principles 1
2 Necrologic syndrome 28
3 Metabolic acidosis 90
4 Hepatic syndrome 116
5 Cardiac syndromes 143
6 Storage syndrome and dysmorphism 162
7 Acute metabolic illness in the newborn 198
8 Newborn screening 228
9 Laboratory investigation 241
10 Treatment 297