Open AccessImpaired lipolysis in propionic acidemia: A new metabolic myopathy?
Author(s) -
Storgaard Jesper H.,
Madsen Karen L.,
Løkken Nicoline,
Vissing John,
Hall Gerrit,
Lund Allan M.,
Ørngreen Mette C.
Publication year - 2020
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12113
Subject(s) - lipolysis , propionic acidemia , medicine , endocrinology , carnitine , beta oxidation , carbohydrate , myopathy , carbohydrate metabolism , cycle ergometer , metabolism , chemistry , adipose tissue , heart rate , blood pressure
The objective of this study was to investigate the fat and carbohydrate metabolism in a patient with propionic acidemia (PA) during exercise by means of indirect calorimetry and stable isotope technique. A 34‐year‐old patient with PA performed a 30‐minute submaximal cycle ergometer test. Data were compared to results from six gender‐ and age‐matched healthy controls. Main findings are that the patient with PA had impaired lipolysis, blunted fatty acid oxidation, compensatory increase in carbohydrate utilization, and low work capacity. Our findings indicate that PA should be added to the list of metabolic myopathies.