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...
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| Veröffentlicht in: | Internal medicine journal 2024-09, Vol.54 (9), p.1567-1571 |
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| container_end_page | 1571 |
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| container_issue | 9 |
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| container_title | Internal medicine journal |
| container_volume | 54 |
| creator | Meier, Ciselle Burns, Kharis Manolikos, Catherine Hodge, Samantha Bell, Damon A. |
| description | 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. |
| doi_str_mv | 10.1111/imj.16473 |
| format | Article |
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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. 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| identifier | ISSN: 1444-0903 |
| ispartof | Internal medicine journal, 2024-09, Vol.54 (9), p.1567-1571 |
| issn | 1444-0903 1445-5994 1445-5994 |
| language | eng |
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| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Adult Diagnosis, Differential Female Humans inherited metabolic disorder MADD Male Mental disorders Metabolic disorders Middle Aged Morbidity Multiple Acyl Coenzyme A Dehydrogenase Deficiency - blood Multiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnosis Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics Pediatrics plasma acylcarnitine riboflavin Young Adult |
| title | Multiple acyl‐Coa dehydrogenase deficiency: an underdiagnosed disorder in adults |
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