Related Experiment Video
Updated: Mar 24, 2026

Quantification of Coenzyme A in Cells and Tissues
Published on: September 27, 2019
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency--diagnostic difficulties and own experience in multidisciplinary
Karolina M Stępień1, Mark Roberts, Christian J Hendriksz
1The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Stott Lane, Salford M6 8HD, e-mail: kstepien@doctors.org.uk, Phone: 0044 161 2064365.
Abstract:
A 19-year old female patient presented with a two-year history of muscle pain and weakness before she was admitted to an acute medical ward with rhabdomyolysis (creatine kinase of 83,344 IU/L) and normal renal function tests. Following admission she was under the care of the rheumatology and neurology teams, which investigated her thoroughly. As part of the belt-and-braces approach, both teams contacted the specialist Adult Inherited Metabolic Disorders team for advice, instigating definitive diagnostic investigations. An accurate diagnosis was required, as an inherited metabolic disorders can present in adult patients as a milder form of the disease. Very-long-chain Acyl-CoA dehydrogenase (VLCAD) deficiency should always be considered as a differential diagnosis of myopathy-related symptoms. Hence, the liaison between neurologists, rheumatologists and metabolic physicians is essential in early diagnosis and the management of patients with conditions causing myopathy.
More Related Videos
06:48Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
06:53Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry
Published on: November 23, 2011
Related Concept Videos
Chronic Pancreatitis II: Collaborative Care
Assessment:
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
Atherosclerosis III: Management
Cystic Fibrosis: Management
Sinus disease and chronic...
Overview of Fatty Acid Metabolism
Fatty acids are catabolized in a process called beta-oxidation, which takes place in the matrix of the mitochondria and converts their fatty acid chains into two-carbon units of acetyl groups. The acetyl...
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation