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130 Possible Causes for Combined Mitochondrial Respiratory Chain Deficiency

  • Unverricht-Lundborg Syndrome

    Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex[orpha.net] V deficiency Mitochondrial encephalomyopathy-aminoacidopathy syndrome Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Mitochondrial encephalomyopathy[orpha.net] Mitochondrial DNA-related mitochondrial myopathy Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency[orpha.net]

  • Lafora Disease

    Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory[expasy.org] chain complexes.[expasy.org]

  • Benign Adult Familial Myoclonic Epilepsy

    Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex[orpha.net] V deficiency Mitochondrial encephalomyopathy-aminoacidopathy syndrome Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Mitochondrial encephalomyopathy[orpha.net] Mitochondrial DNA-related mitochondrial myopathy Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency[orpha.net]

  • West Syndrome

    Kemp JP, Smith PM, Pyle A et al : Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.[nature.com] Kemp JP , Smith PM , Pyle A et al : Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency .[nature.com] In summary, nuclear defects affecting mitochondrial protein synthesis are common within combined respiratory chain deficiencies (about one-third of patients 49 ) and could[nature.com]

  • Movement Disorder

    We identified a proband with an epileptic encephalopathy, complex movement disorder and a combined mitochondrial respiratory chain enzyme deficiency.[ncbi.nlm.nih.gov] A combined deficiency of mitochondrial complexes I, III and IV was noted in liver tissue, along with increased mitochondrial DNA content in skeletal muscle.[ncbi.nlm.nih.gov] Although mutations in either mitochondrial DNA or POLG are often present, other nuclear defects in mitochondrial DNA replication and protein translation have been associated[ncbi.nlm.nih.gov]

  • Combined Oxidative Phosphorylation Defect Type 8

    Methods and results We identified a proband with an epileptic encephalopathy, complex movement disorder and a combined mitochondrial respiratory chain enzyme deficiency.[jmg.bmj.com] COXPD8 is an autosomal recessive disorder due to dysfunction of the mitochondrial respiratory chain.[ncbi.nlm.nih.gov] A combined deficiency of mitochondrial complexes I, III and IV was noted in liver tissue, along with increased mitochondrial DNA content in skeletal muscle.[jmg.bmj.com]

  • Leigh's Disease

    ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.[ncbi.nlm.nih.gov] HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.[ncbi.nlm.nih.gov] Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.[ncbi.nlm.nih.gov]

  • Acute Infantile Liver Failure-Multisystemic Involvement Syndrome

    […] translation cause a subgroup of combined respiratory chain deficiency.[link.springer.com] A combined deficiency of many respiratory chain enzymes was the most common type, however in a few cases the decreased activity was only observed in a single enzyme affecting[link.springer.com] BN PAGE In this cohort ten of 40 patients (25 %) showed mitochondrial abnormalities on BN PAGE (Tables 1 and 2 , Figs. 2 and 3 ).[link.springer.com]

  • Dysautonomia

    * Complement component receptor 1 * Complement receptor deficiency * Complete atrioventricular canal * Complex 1 mitochondrial respiratory chain deficiency * Complex 2 mitochondrial[medicalgeek.com] […] hyperlipidemia, familial * Common mesentery * Common variable immunodeficiency * Compartment syndrome * Complement component 2 deficiency * Complement component deficiency[medicalgeek.com] Colonic atresia * Colonic malakoplakia * Colorectal cancer, hereditary nonpolyposis, type 1 * Colpocephaly * Colver Steer Godman syndrome * Combarros Calleja Leno syndrome * Combined[medicalgeek.com]

  • Deafness, Autosomal Dominant 23

    DISEASE Respiratory chain enzyme deficiency Deficiency of one specific complex Combined deficiency Primary Secondary Mutation of a gene involved in respiratory chain Respiratory[docplayer.net] […] chain protein Regulation 5 CLINICAL PRESENTATION OF MITOCHONDRIAL DISORDERS Any symptom Any organ or tissue Any age of onset Any mode of inheritance Diagnosis clues?[docplayer.net] […] fibroblasts 3 MITOCHONDRIAL RESPIRATORY CHAIN CI CII CIII CIV CV outer membrane H H H H c inner membrane Q Q matrix NADH Succinate H 2 O O 2 Pi electron flux proton flux ATP ADP 4 MITOCHONDRIAL[docplayer.net]

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