Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.
CPTII
Inborn errors of metabolism
Rhabdomyolsis
Journal
CEN case reports
ISSN: 2192-4449
Titre abrégé: CEN Case Rep
Pays: Japan
ID NLM: 101636244
Informations de publication
Date de publication:
21 Jun 2023
21 Jun 2023
Historique:
received:
02
06
2023
accepted:
12
06
2023
medline:
21
6
2023
pubmed:
21
6
2023
entrez:
21
6
2023
Statut:
aheadofprint
Résumé
Metabolic myopathies are among the treatable causes of rhabdomyolysis and myoglobinuria. Carnitine palmitoyl transferase 2 (CPT II) deficiency is one of the most common causes of recurrent myoglobinuria in adults. It is an inherited disorder of fatty acid oxidation pathway, commonly associated with elevated acylcarnitine levels. In this case report, we present a 49-year-old male patient who developed acute kidney injury after rhabdomyolysis and was thus diagnosed with CPT2 deficiency after his first episode of rhabdomyolysis. Inborn errors of metabolism should be kept in mind in patients with rhabdomyolysis. Acylcarnitine profile may be normal in CPT II deficiency, even during an acute attack, and molecular genetic diagnostics should be applied if there is high index of clinical suspicion.
Identifiants
pubmed: 37341884
doi: 10.1007/s13730-023-00804-8
pii: 10.1007/s13730-023-00804-8
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023. The Author(s) under exclusive licence to The Japan Society of Nephrology.
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