[Metabolic defects with hypoketotic hypoglycemia].

Metabolic defects resulting in hypoketotic hypoglycemia can lead to hepato-encephalopathy and can be lethal. Recognition of the association of hypoglycemia with hypoketonemia is essential for efficient diagnostic and therapeutic procedures. The pattern of urinary excretion of organic acids is useful in differential diagnosis between the possible metabolic defects, viz. carnitine deficiency, carnitine palmitoyl transferase deficiency, medium-chain, long-chain and multiple acyl-CoA dehydrogenase deficiencies, and HMG-CoA lyase deficiency. These (except for carnitine deficiency) can be confirmed by enzyme activity measurements in cultured fibroblasts and tissue biopsies and prenatally. Treatment is available for all of them except some cases of multiple acyl-CoA dehydrogenase deficiency. Genetic counselling of the families must be based on a precise biochemical diagnosis.