Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - 07/03/14
, Marinus Duran, PhD b, Ronald J.A. Wanders, PhD b, Hans R. Waterham, PhD b, Tom J. de Koning, MD, PhD c, Estela Rubio, MD, PhD d, Frits A. Wijburg, MD, PhD a
Reprint requests: Bianca T. van Maldegem, MD, Department of Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.Abstract |
Objective |
To gain insight into the pathophysiological and clinical consequences of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD).
Study design |
A retrospective study of 15 fasting and 6 fat-loading tests in 15 Dutch patients with SCADD, divided into 3 genotype groups. Metabolic and endocrinologic measurements and the biochemical characteristics of SCADD, ethylmalonic acid (EMA), and C4-carnitine were studied.
Results |
Three patients had development of hypoglycemia during fasting; all of these had originally presented with hypoglycemia. Metabolic and endocrinologic measurements remained normal during all tests. The EMA excretion increased in response to fasting and fat loading, and plasma C4-carnitine remained stable. Test results did not differ between the 3 genotype groups.
Conclusions |
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 our 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.
Il testo completo di questo articolo è disponibile in PDF.Mots-clés : ACADS, BG, C4-CoA, C4-C, EMA, FAO, IKH, KB, Mut/mut, Mut/var, NEFA, SCAD, SCADD, Var/var
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| Supported by a research grant from the Dutch association for research on metabolic disorders “Metakids” (www.metakids.nl). |
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| The authors declare no conflicts of interest. |
Vol 156 - N° 1
P. 121-127 - gennaio 2010 Ritorno al numero
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