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Isolated CoQ-Cytochrome C Reductase Deficiency

Isolated Coenzyme Q-Cytochrome C Reductase Deficiency


Presentation

  • The biochemical defect was not present in the patient's muscle tissue culture. Metabolic measurements and functional evaluation showed a reduced mechanical efficiency during exercise.[moh-it.pure.elsevier.com]
  • In the present study we genetically manipulated yeast strains in order to alter the redox state of CoQ and NADH dehydrogenases to evaluate the consequences on mtDNA (mitochondrial DNA) maintenance.[biochemj.org]
  • The trichloroacetic acid method may reduce the amount of superoxide dismutase (SOD) present, but tends to cause dimerization or acid-modified structures of cytochrome c.[sigmaaldrich.com]
  • In the present paper we investigated the levels in plasma, lymphocytes … and erythrocytes, of ubiquinol and ubiquinone, other enzymatic and non-enzymatic lipophilic and hydrophilic antioxidants, polyunsaturated fatty acids of phosfolipids and cholesterol[content.iospress.com]
Cerebral Palsy
  • 94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100[books.google.com]
Marfanoid Habitus
  • habitus X-linked non-syndromic intellectual deficit Burkitt lymphoma Alternating hemiplegia of childhood Benign paroxysmal torticollis of infancy Familial or sporadic hemiplegic migraine Familial paroxysmal ataxia Spinocerebellar ataxia type 6 ALG3-CDG[csbg.cnb.csic.es]
Thrombosis
  • Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis[books.google.com]
Torticollis
  • Leigh syndrome with cardiomyopathy Autosomal thrombocytopenia with normal platelets X-linked intellectual deficit with marfanoid habitus X-linked non-syndromic intellectual deficit Burkitt lymphoma Alternating hemiplegia of childhood Benign paroxysmal torticollis[csbg.cnb.csic.es]
  • […] torsion dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Idiopathic dystonia; Idiopathic torsion dystonia; Oppenheim dystonia 1 ORPHA256 G24.1 128100 ; 602554 ; Autosomal dominant cervical dystonia; Autosomal dominant spasmodic torticollis[catalogue.rd-connect.eu]
Hearing Impairment
  • MATERNALLY-INHERITED CARDIOMYOPATHY AND HEARING LOSS Is also known as maternally-inherited cardiomyopathy and deafness; trna-lys-related cardiomyopathy-hearing loss syndrome Related symptoms: Ataxia Sensorineural hearing impairment Muscle weakness Peripheral[mendelian.co]
Hyperreflexia
  • CARDIOMYOPATHY AND HEARING LOSS Is also known as maternally-inherited cardiomyopathy and deafness; trna-lys-related cardiomyopathy-hearing loss syndrome Related symptoms: Ataxia Sensorineural hearing impairment Muscle weakness Peripheral neuropathy Hyperreflexia[mendelian.co]

Workup

  • During a routine diagnostic workup designed to diagnose mitochondrial diseases from patients' muscle biopsy samples, we observed a substantial (50%-66%) decrease of mitochondrial enzymatic activities related to complex I compared with historical values[thefreelibrary.com]

Treatment

  • The complete recovery of myopathy with exogenous CoQ(10) supplementation observed in this patient highlights the importance of early identification and treatment of this genetic disorder.[unboundmedicine.com]
  • Treatment of Kearns Sayre syndrome with coenzyme Q j. Neurology 1986; 36: 45-53. 7. Bresolin N, Moggio M, Bet L, et al.[docslide.com.br]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.[uniprot.org]

Prognosis

  • Multiple deletion Ataxia, Hypogonadism & Choroidal dystrophy: Multiple deletion Isolated Complex I deficit: Nuclear mutations Clinical features: General Nuclear mutations more common than mitochondrial Onset: Childhood; Mean 4 to 5 months Male:Female 3.5:1 Prognosis[neuromuscular.wustl.edu]

Etiology

  • Early-onset cerebellar ataxia 1 G11.1 Spastic ataxia, Charlevoix-Saguenay type 1 ORPHA98 G11.1 270550 Harding ataxia 1 ORPHA1177 G11.1 212895 FRIEDREICH ATAXIA 42 ORPHA95 G11.1 229300 Late-onset cerebellar ataxia 3 G11.2 Sporadic adult-onset ataxia of unknown etiology[catalogue.rd-connect.eu]

Epidemiology

  • […] mitochondrial respiratory chain complex III deficiency - Isolated ubiquinone-cytochrome C reductase deficiency Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for UQCRB Genetic Association Database (GAD) UQCRB Human Genome Epidemiology (HuGE) Navigator UQCRB Atlas of Genetics and Cytogenetics in Oncology and Haematology: UQCRB No data available for Genatlas for UQCRB Gene A deletion[genecards.org]
Sex distribution
Age distribution

Prevention

  • Antimycin A locks the b hemes in the reduced state by preventing their re-oxidation at the Q i site, which, in turn, causes the steady-state concentrations of the Q o semiquinone to rise, the latter species reacting with oxygen to form superoxide.[en.wikipedia.org]

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