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

Title

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

Creator

Derks TG; Reijngoud DJ; Waterham HR; Gerver WJ; van den Berg MP; Sauer PJ; Smit GP

Publisher

The Journal Of Pediatrics

Date

2006

Subject

Child; Humans; infant; Cohort Studies; Adult; Prognosis; Middle Aged; Disease Progression; Netherlands; Severity of Illness Index; Longitudinal Studies; adolescent; Preschool; infant; Newborn; retrospective studies; Acyl-CoA Dehydrogenase/deficiency/genetics; Mutation/genetics; Metabolism; Inborn Errors/complications/diagnosis/genetics

Description

OBJECTIVES: To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. STUDY DESIGN: 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.
2006

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

665-670

Issue

5

Volume

148

Citation

Derks TG; Reijngoud DJ; Waterham HR; Gerver WJ; van den Berg MP; Sauer PJ; Smit GP, “The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome,” Pediatric Palliative Care Library, accessed May 25, 2022, https://pedpalascnetlibrary.omeka.net/items/show/13700.

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