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Updated: Jun 17, 2025

Quantification of Coenzyme A in Cells and Tissues
Published on: September 27, 2019
Multiple acyl-Coa dehydrogenase deficiency: an underdiagnosed disorder in adults
Ciselle Meier1, Kharis Burns1,2, Catherine Manolikos2,3
1The Medical School, University of Western Australia, Perth, Western Australia, Australia.
Abstract:
Inherited metabolic diseases, as a first presentation in adults, are an under-recognised condition associated with significant morbidity and mortality. Diagnosis is challenging because of non-specific clinical and biochemical findings, resemblance to common conditions such as neuropsychiatric disorders and the misconception that these disorders predominantly affect paediatric populations. We describe a series of patients with multiple acyl-CoA dehydrogenase deficiency (MADD)/MADD-like disorders to highlight these diagnostic challenges.
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