Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency.
OBJECTIVE
To gain insight into the pathophysiological and clinical consequences of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD).


METHODS
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.
van Maldegem
Bianca T
BT
Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. B.T.vanMaldegem@amc.uva.nl
Duran
Marinus
M
Wanders
Ronald J A
RJ
Waterham
Hans R
HR
de Koning
Tom J
TJ
Rubio
Estela
E
Wijburg
Frits A
FA
D000293:Adolescent; D044926:Butyryl-CoA Dehydrogenase / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D004042:Dietary Fats, Unsaturated / Q000008:administration & dosage; D005215:Fasting; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000201:enzymology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000503:physiopathology*; D015997:Neonatal Screening; D010938:Plant Oils / Q000008:administration & dosage; D012189:Retrospective Studies; D000074242:Sunflower Oil
D004042:Dietary Fats, Unsaturated; D010938:Plant Oils; D000074242:Sunflower Oil; D044926:Butyryl-CoA Dehydrogenase