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Abnormality of mitochondrial metabolism

MedGen UID:
867369
•Concept ID:
C4021734
•
Disease or Syndrome; Finding
Synonyms: Dysfunction, Mitochondria; Dysfunction, Mitochondrial; Mitochondria Dysfunction; Mitochondria Dysfunctions; Mitochondrial Dysfunction; Mitochondrial Dysfunctions
 
HPO: HP:0003287

Definition

A functional anomaly of mitochondria. [from HPO]

Professional guidelines

PubMed

Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.
Barcelos I, Shadiack E, Ganetzky RD, Falk MJ
Curr Opin Pediatr 2020 Dec;32(6):707-718. doi: 10.1097/MOP.0000000000000954. PMID: 33105273Free PMC Article
Friedreich's ataxia: clinical features, pathogenesis and management.
Cook A, Giunti P
Br Med Bull 2017 Dec 1;124(1):19-30. doi: 10.1093/bmb/ldx034. PMID: 29053830Free PMC Article
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523

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