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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Internal medicine journal 2024-09, Vol.54 (9), p.1567-1571
Hauptverfasser: Meier, Ciselle, Burns, Kharis, Manolikos, Catherine, Hodge, Samantha, Bell, Damon A.
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
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.
ISSN:1444-0903
1445-5994
1445-5994
DOI:10.1111/imj.16473