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

被引：0

作者：

Meier, Ciselle ^{[1
]}

Burns, Kharis ^{[1
,2
]}

Manolikos, Catherine ^{[2
,3
]}

Hodge, Samantha ^{[2
,3
]}

Bell, Damon A. ^{[1
,2
,4
]}

机构：

[1] Univ Western Australia, Med Sch, Perth, WA, Australia

[2] Royal Perth Hosp, Dept Endocrinol, Inborn Errors Metab Serv, Perth, WA, Australia

[3] Royal Perth Hosp, Dept Dietet & Nutr, Perth, WA, Australia

[4] Fiona Stanley & Royal Perth Hosp Network, Dept Biochem, PathWest Lab Med WA, Perth, WA, Australia

来源：

INTERNAL MEDICINE JOURNAL | 2024年 / 54卷 / 09期

关键词：

MADD; inherited metabolic disorder; riboflavin; plasma acylcarnitine; LIPID STORAGE MYOPATHY; ACETYL-L-CARNITINE; FLAD1; MUTATIONS; ACID;

D O I：

10.1111/imj.16473

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1567 / 1571

页数：5

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