TY - JOUR
T1 - Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency
AU - van Maldegem, Bianca T.
AU - Duran, Marinus
AU - Wanders, Ronald J. A.
AU - Waterham, Hans R.
AU - de Koning, Tom J.
AU - Rubio, Estela
AU - Wijburg, Frits A.
PY - 2010
Y1 - 2010
N2 - To gain insight into the pathophysiological and clinical consequences of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD). 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. 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. 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
AB - To gain insight into the pathophysiological and clinical consequences of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD). 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. 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. 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
U2 - https://doi.org/10.1016/j.jpeds.2009.07.008
DO - https://doi.org/10.1016/j.jpeds.2009.07.008
M3 - Article
C2 - 19800078
SN - 0022-3476
VL - 156
SP - 121
EP - 127
JO - Journal of pediatrics
JF - Journal of pediatrics
IS - 1
ER -