Multiple acyl-Coa dehydrogenase deficiency: an underdiagnosed disorder in adults.
Intern Med J
; 54(9): 1567-1571, 2024 Sep.
Article
em En
| MEDLINE
| ID: mdl-39132981
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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Base de dados:
MEDLINE
Assunto principal:
Deficiência Múltipla de Acil Coenzima A Desidrogenase
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article