The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.
OBJECTIVE
To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.


METHODS
A nationwide, retrospective analysis of clinical presentation and follow-up in 155 Dutch patients with MCAD deficiency.


RESULTS
Most patients presented between 3 months and 5.1 years of age; 13% had symptoms as neonates not exclusively related to breast-feeding. An acute presentation before the diagnosis was made resulted in a mortality of 22% (25/114), whereas 21% (19/89) developed disabilities after the diagnosis. On follow-up, a total of 44 patients reported fatigue (35%; 28/80), muscle pain (31%; 25/80), and/or reduced exercise tolerance (39%; 31/80). Cardiac evaluation in 11 adult patients revealed no abnormalities in cardiac function explaining these complaints. Children with MCAD deficiency readily become overweight.


CONCLUSIONS
Mortality and morbidity were high in undiagnosed children with MCAD deficiency; establishment of the diagnosis significantly improves outcome. Strikingly, after the diagnosis and initiation of treatment, overweight and chronic complaints (fatigue, muscle pain, and reduced exercise tolerance) were prominent.
Derks
Terry G J
TG
Division and Laboratory of Metabolic Diseases, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. t.g.j.derks@bkk.umcg.nl
Reijngoud
Dirk-Jan
DJ
Waterham
Hans R
HR
Gerver
Willem-Jan M
WJ
van den Berg
Maarten P
MP
Sauer
Pieter J J
PJ
Smit
G Peter A
GP
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D018450:Disease Progression; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009426:Netherlands; D011379:Prognosis; D012189:Retrospective Studies; D012720:Severity of Illness Index
D042964:Acyl-CoA Dehydrogenase