An unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system.
Abstract
Multiple-acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder which can be split into three types. Type III MADD is associated with acute or subacute proximal muscle weakness and other variable non-specific features making it a challenging diagnosis for the clinician. This case report describes MADD in a 64 year-old lady, thought to be one of the latest first presentations of the disease. Unusually for this condition, the initial presentation was with dyspnoea. Furthermore, since this case provides further evidence that gene variants can predict age of onset, we advocate for further subclassification of type III MADD into late onset MADD (LO-MADD) when homozygous gene variants are present and very LO-MADD when heterozygous gene variants are found
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Date
2022-09-03
Type
Article
Subject
Oncology. Pathology.
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Citation
Eskell M, Khan H. An unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system. J R Coll Physicians Edinb. 2022 Sep;52(3):256-258. doi: 10.1177/14782715221121021. Epub 2022 Sep 3
Journal / Source Title
Journal of the Royal College of Physicians of Edinburgh
DOI
10.1177/14782715221121021
PMID
36369806
Publisher
Royal College of Physicians of Edinburgh
Publisher’s URL
http://www.rcpe.ac.uk/publications/the_journal.php
https://journals.sagepub.com/home/rcp
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