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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormality of mitochondrial metabolism

Phenotypic abnormality
- Abnormal cellular phenotype
  - Abnormal cellular physiology
    - Abnormality of the mitochondrion
      - Abnormality of mitochondrial metabolism
        Abnormal activity of mitochondrial respiratory chain
        Decreased activity of mitochondrial respiratory chain
        Decreased activity of mitochondrial ATP synthase complex
        Decreased activity of mitochondrial complex I
        Decreased activity of mitochondrial complex II
        Decreased activity of mitochondrial complex III
        Decreased activity of mitochondrial complex IV
        Increased activity of mitochondrial respiratory chain
        Abnormal iron deposition in mitochondria
        Decreased activity of the pyruvate dehydrogenase complex
        Deficiency or absence of cytochrome b(-245)
        Electron transfer flavoprotein-ubiquinone oxidoreductase defect
        Mitochondrial depletion
        Mitochondrial lysine transport defect
        Mitochondrial malic enzyme reduced
        Mitochondrial propionyl-CoA carboxylase defect
        Mitochondrial respiratory chain defects

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Abnormality of mitochondrial metabolism

Definition

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