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5 Possible Causes for Activities of Several Mitochondrial Respiratory Enzymes Decreased

  • Combined Oxidative Phosphorylation Deficiency 22

    Combined Oxidative Phosphorylation Deficiency 5 in a Patient with Compound Heterozygous Pathogenic MRPS22 Gene Variants Combined oxidative phosphorylation deficiency 5 (COXPD5) is an autosomal recessive condition caused by pathogenic variants in the MRPS22 gene. This severe mitochondrial disease is characterized[…][]

  • Generalized Myotonia of Thomsen

    Respiratory-chain enzyme activities and CoQ10 were decreased in severely affected patients but remained normal in a mildly affected patient at 46 years of age.[] Muscle biopsy revealed lipid accumulation, mitochondrial proliferation and cytochrome c oxidase-deficient fibres, but no typical ragged red fibres.[]

  • Progressive External Ophthalmoplegia - Myopathy - Emaciation Syndrome

    Skeletal muscle samples from all patients showed mtDNA deletion and depletion with variable decreases in mitochondrial respiratory enzyme activity.[] The phenotype was somewhat variable, but common features included ptosis, progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, severe emaciation, and respiratory[] Fibroblast cultures from 1 of the patients with the truncating mutation showed severely perturbed mtDNA replication under specific conditions with evidence of replication[]

  • Autosomal Dominant Congenital Nystagmus 3

    : Apnea, episodic MUSCLE, SOFT TISSUE: Hypotonia; Secondarily decreased activities of mitochondrial respiratory enzymes (1 patient) NEUROLOGIC: [Central nervous system]; Delayed[] […] psychomotor development, severe; Spasticity; Abnormal T2-weighted hyperintensities in the basal ganglia consistent with Leigh syndrome LABORATORY ABNORMALITIES: Increased[] Ears]; Hearing impairment (1 patient); [Eyes]; Nystagmus CARDIOVASCULAR: [Heart]; Ventricular septal defect (1 patient); Obstructive hypertrophic cardiomyopathy (1 patient) RESPIRATORY[]

  • Mitochondrial DNA Depletion Syndrome 3 Type Hepatocerebral

    Mitochondrial DNA was 90% depleted in liver and activity of mitochondrial-encoded respiratory chain enzymes were markedly decreased.[] She had severe metabolic acidosis, hepatomegaly, and rapidly progressive fatal liver failure with death at age 4 months.[]

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