Work

Multiple acyl‐Coa dehydrogenase deficiency: an underdiagnosed disorder in adults

Year: 2024

Type: article

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.

Source: Internal Medicine Journal

DOI: 10.1111/imj.16473

Authors: Ciselle Meier, Kharis Burns, Catherine Manolikos, Samantha Hodge, Damon A. Bell

Institutions: The University of Western Australia, Royal Perth Hospital, Fiona Stanley Hospital, Pathwest Laboratory Medicine

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,400