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

Ciselle Meier; Kharis Burns; Catherine Manolikos; Samantha Hodge; Damon A Bell

doi:10.1111/imj.16473

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

Intern Med J. 2024 Sep;54(9):1567-1571. doi: 10.1111/imj.16473. Epub 2024 Aug 12.

Authors

Ciselle Meier¹, Kharis Burns^{1

2}, Catherine Manolikos^{2

3}, Samantha Hodge^{2

3}, Damon A Bell^{1

2

4}

Affiliations

¹ The Medical School, University of Western Australia, Perth, Western Australia, Australia.
² Inborn Errors of Metabolism Service, Department of Endocrinology, Royal Perth Hospital, Perth, Western Australia, Australia.
³ Department of Dietetics and Nutrition, Royal Perth Hospital, Perth, Western Australia, Australia.
⁴ Department of Biochemistry, Fiona Stanley and Royal Perth Hospital Network, PathWest Laboratory Medicine WA, Perth, Western Australia, Australia.

PMID: 39132981
DOI: 10.1111/imj.16473

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.

Keywords: MADD; inherited metabolic disorder; plasma acylcarnitine; riboflavin.

Publication types

Case Reports

MeSH terms

Adult
Diagnosis, Differential
Female
Humans
Male
Middle Aged
Multiple Acyl Coenzyme A Dehydrogenase Deficiency* / blood
Multiple Acyl Coenzyme A Dehydrogenase Deficiency* / diagnosis
Multiple Acyl Coenzyme A Dehydrogenase Deficiency* / genetics
Young Adult