• Internal medicine journal · Sep 2024

    Case Reports

    Multiple acyl-Coa dehydrogenase deficiency: an underdiagnosed disorder in adults.

    • Ciselle Meier, Kharis Burns, Catherine Manolikos, Samantha Hodge, and Damon A Bell.
    • The Medical School, University of Western Australia, Perth, Western Australia, Australia.
    • Intern Med J. 2024 Sep 1; 54 (9): 156715711567-1571.

    AbstractInherited 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.© 2024 The Author(s). Internal Medicine Journal published by John Wiley & Sons Australia, Ltd on behalf of Royal Australasian College of Physicians.

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