2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report

2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report

ABSTRACT Multiple acyl‐CoA dehydrogenase deficiency (MADD) is a rare inborn metabolic myopathy affecting fat and protein metabolism. Patients with late‐onset MADD typically present with exercise intolerance and muscle weakness. We present a patient with an acute, very late‐onset symptom debut at 52 ...

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Main Authors: Astrid Høj, Sonja Holm‐Yildiz, Thomas Krag, Danijela Dejanovic, Thomas vanOvereem Hansen, Morten Dunø, Mette Cathrine Ørngreen, John Vissing, Nicoline Løkken
Format: Article
Language:English
Published: Wiley 2025-03-01
Series:JIMD Reports
Subjects:
FDG PET/CT
lipid myopathy
MADD
metabolic myopathy
multiple acyl coenzyme‐A dehydrogenase deficiency
muscle biopsy
Online Access:https://doi.org/10.1002/jmd2.12469
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https://doi.org/10.1002/jmd2.12469

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