Multiple acyl‐Coa dehydrogenase deficiency: an underdiagnosed disorder in adults
Ciselle Meier,
Kharis Burns,
Catherine Manolikos
et al.
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 th… Show more
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