The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome

To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. A nationwide, retrospective analysis of clinical presentation and follow-up in 155 Dutch patients with MCAD deficiency. Most patients presented betw...

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Bibliographic Details
Published in:The Journal of pediatrics 2006-05, Vol.148 (5), p.665-670.e3
Main Authors: Derks, Terry G.J., Reijngoud, Dirk-Jan, Waterham, Hans R., Gerver, Willem-Jan M., van den Berg, Maarten P., Sauer, Pieter J.J., Smit, G. Peter A.
Format: Article
Language:English
Subjects:
Acyl-CoA Dehydrogenase - deficiency
Acyl-CoA Dehydrogenase - genetics
Adolescent
Adult
Biological and medical sciences
Child
Child, Preschool
Cohort Studies
Disease Progression
Disorders of blood lipids. Hyperlipoproteinemia
Errors of metabolism
General aspects
Humans
Infant
Infant, Newborn
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Metabolic diseases
Metabolism, Inborn Errors - complications
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - genetics
Middle Aged
Mutation - genetics
Netherlands
Prognosis
Retrospective Studies
Severity of Illness Index
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Summary:To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. A nationwide, retrospective analysis of clinical presentation and follow-up in 155 Dutch patients with MCAD deficiency. 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. 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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2005.12.028