ABSTRACT
Glutaric aciduria Type II was first reported in 1976 by Przyrembel et al. [1] in an infant with severe hypoglycemia and profound metabolic acidosis without ketosis. Patients with this form of the disorder have overwhelming illness in the neonatal period that has been uniformly fatal. The name was employed to distinguish the disease from the glutaric aciduria due to defective activity of glutaryl CoA dehydrogenase (Chapter 8) that had been reported a year earlier by Goodman and colleagues [2]. Organic acid analysis revealed the accumulation of a wide variety of organic acids, including lactic and ethylmalonic acids, as well as glutaric acid. There is generalized defect in the activity of many acyl CoA dehydrogenases [3]. Thus, the term of multiple acyl CoA dehydrogenase deficiency is more descriptive, it has variously been abbreviated MAD deficiency and MADD; it has also been divided into severe (MAD:S) and mild (MAD:M) forms [4], but there is sufficient heterogeneity of clinical expression that these are not useful.
