Multiple acyl‐Coa dehydrogenase deficiency: an underdiagnosed disorder in adults
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 disord...
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Veröffentlicht in: | Internal medicine journal 2024-09, Vol.54 (9), p.1567-1571 |
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Hauptverfasser: | , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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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ISSN: | 1444-0903 1445-5994 1445-5994 |
DOI: | 10.1111/imj.16473 |