A case report on multiple acyl-CoA dehydrogenase deficiency with severe myopathy and osteoporosis.
mitochondrial dysfunction
myopathy
osteoporosis
Journal
International journal of rheumatic diseases
ISSN: 1756-185X
Titre abrégé: Int J Rheum Dis
Pays: England
ID NLM: 101474930
Informations de publication
Date de publication:
22 Sep 2023
22 Sep 2023
Historique:
revised:
10
08
2023
received:
08
05
2023
accepted:
26
08
2023
medline:
22
9
2023
pubmed:
22
9
2023
entrez:
22
9
2023
Statut:
aheadofprint
Résumé
A 35-year-old male patient presented fluctuating bilateral lower extremity weakness for 3 years. Physical examination showed grade 4 proximal muscle weakness in both lower extremities and grade 5 distal muscle weakness. Laboratory data revealed elevated creatine kinase, triglycerides, and cholesterol. Muscle pathology showed deposition of lipid droplet under the sarcolemma. Bone densitometry indicated severe osteoporosis. Next-generation sequencing revealed a pathogenic mutation in the ETFDH gene. The patient was diagnosed with late-onset multiple acyl-CoA dehydrogenase deficiency. After riboflavin treatment, symptoms of the patient were relieved, physical endurance was restored, and bone mineral density was improved.
Identifiants
pubmed: 37737545
doi: 10.1111/1756-185X.14906
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.
Références
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