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Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
The Journal of Pediatrics, 10/09/09

Maldegem BTV et al. – The metabolic profiles of the 3 patients with development of hypoglycemia resemble idiopathic ketotic hypoglycemia. Because hypoglycemia generally requires a metabolic work–up and because SCADD is relatively prevalent, SCADD may well be diagnosed coincidently, thus being causally unrelated to the hypoglycemia. If SCADD has any other pathologic consequences, the accumulation of potentially toxic metabolites such as EMA is most likely involved. However, the results of this study indicate that there is no clear pathophysiological significance, irrespective of genotype, supporting the claim that SCADD is not suited for inclusion in newborn screening programs.

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