Disorders of ketogenesis and ketolysis

Abstract

Disorders of ketone body metabolism present either in the first few days of life or later in childhood, during an infection or some other metabolic stress. In defects of ketogenesis, decompensation leads to encephalopathy, with vomiting and a reduced level of consciousness, often accompanied by hepatomegaly. The biochemical features – hypoketotic hypoglycaemia, with or without hyperammonaemia – resemble those seen in fatty acid oxidation disorders. In defects of ketolysis, the clinical picture is dominated by severe ketoacidosis. This is often accompanied by decreased consciousness and dehydration.