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. [unboundmedicine.com]

The biochemical defect was not present in the patient's muscle tissue culture. [moh-it.pure.elsevier.com]

In most cases, mtDNA mutations are heteroplasmic as both normal and mutant mtDNA are present. [em-consulte.com]

In a second aspect, the present invention relates to a drug identified by the method of the present invention for the treatment of diseases involving mitochondrial dysfunction and / or MELAS. [patents.google.com]

[…] a) NADH dehydrogenase complex b) Cytochrome a-a3 oxidase c) Succinate dehydrogenase d) Cytochrome bc 1 -c reductase Q.10-A child has accidentally ingested a chemical and has presented with high fever.The chemical is known to affect ATP formation in electron [namrata.co]

• Anemia

  […] epidermolytic 0 Epidermolysis bullosa, generalized atrophic benign 0 Epidermolysis bullosa, junctional 0 Epidermolysis bullosa, junctional, non-Herlitz type 0 Epiphyseal dysplasia multiple 0 Erythroderma, congenital ichthyosiform, nonbullous 0 Fanconi anemia [research.cchmc.org]

  Aceruloplasminemia Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Acyl-CoA dehydrogenase deficiency Adrenomyeloneuropathy Adult Krabbe disease Adult neuronal ceroid lipofuscinosis Adult-onset autosomal recessive sideroblastic anemia [se-atlas.de]

  NADH-CoQ reductase deficiency Leigh syndrome with leukodystrophy Huntington disease Juvenile Huntington disease CLN3 disease Precursor T-cell acute lymphoblastic leukemia Dedifferentiated liposarcoma Well-differentiated liposarcoma Blackfan-Diamond anemia [csbg.cnb.csic.es]

  […] acidosis Dilated cardiomyopathy Increased serum lactate Developmental regression Motor delay Visual impairment Intellectual disability Abnormal pyramidal sign Vomiting Rare Symptoms - Less than 30% cases Progressive neurologic deterioration Myoclonus Anemia [mendelian.co]

  Cell, 25, 2542 – 2555. 14 et al. ( 2014 ) Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). [doi.org]

• Liver Dysfunction

  Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269 PubMed:12709789}. [genecards.org]

  Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. [uniprot.org]

  Clinical syndromes associated with defects in mtRNA metabolism are characterized by the variable combination of encephalopathy, myopathy, sideroblastic anemia, cardiomyopathy, renal or liver dysfunction. [doi.org]

• Visual Impairment

  Metabolic acidosis Dilated cardiomyopathy Increased serum lactate Developmental regression Motor delay Visual impairment Intellectual disability Abnormal pyramidal sign Vomiting Rare Symptoms - Less than 30% cases Progressive neurologic deterioration [mendelian.co]

  In the majority of cases, visual impairment eventually becomes bilateral (documented in up to 99.4% of cases), with about 50.3% of all patients demonstrating sequential onset. [pubs.rsna.org]

• 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]

  SUCLA2 patients present with psychomotor retardation, muscle hypotonia, hearing impairment and seizures [ 89 ], whereas those with SUCLG1 mutations have encephalomyopathy and methylmalonic aciduria [ 90 ]. [em-consulte.com]

• Myopathy

  TY - JOUR T1 - A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. [unboundmedicine.com]

  A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. [moh-it.pure.elsevier.com]

  @article{Lalani2005IsolatedMM, title={Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.}, author={Seema R. Lalani and Georgirene D. Vladutiu and Katie S Plunkett and Timothy E. [semanticscholar.org]

  MYOPATHY, MYOFIBRILLAR, 6; MFM6 Is also known as ; Related symptoms: Autosomal dominant inheritance Scoliosis Muscle weakness Myopathy Flexion contracture SOURCES: MESH ORPHANET DOID OMIM MONDO UMLS More info about MYOPATHY, MYOFIBRILLAR, 6; MFM6 Low [mendelian.co]

• Muscle Weakness

  weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. [mendelian.co]

  Mitochondrial Myopathies Muscle Weakness Muscle, Skeletal Staining and Labeling Ubiquinone Pub Type(s) Journal Article Research Support, Non-U.S. [unboundmedicine.com]

  METHODS The patient was evaluated for progressive muscle weakness. Comprehensive clinical evaluation and muscle biopsy… CONTINUE READING [semanticscholar.org]

  Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269 PubMed:12709789}. [genecards.org]

  Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. [uniprot.org]

• Muscle Hypotonia

  SUCLA2 patients present with psychomotor retardation, muscle hypotonia, hearing impairment and seizures [ 89 ], whereas those with SUCLG1 mutations have encephalomyopathy and methylmalonic aciduria [ 90 ]. [em-consulte.com]

• Chronic Progressive External Ophthalmoplegia

  CO: cytochrome c oxidase (control: 152.1 + 39.7, n = 161, CPEO: chronic progressive external ophthalmoplegia, KSS: Kearns Sayre syndrome. F: female. M: male, M ERRF: myoclonus epilepsy with ragged-red fibers. [docslide.com.br]

  […] epilepsy-intellectual disability syndrome, Finnish type Progressive external ophthalmoplegia-myopathy-emaciation syndrome Progressive myoclonic epilepsy type 3 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome Pterin-4 alpha-carbinolamine [se-atlas.de]

  autosomal recessive progressive external ophthalmoplegia; and autosomal dominant progressive external ophthalmoplegia. [pubs.rsna.org]

• Global Developmental Delay

  MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2 Is also known as ;bola3 deficiency Related symptoms: Autosomal recessive inheritance Seizures Global developmental delay Generalized hypotonia Ataxia SOURCES: ORPHANET OMIM UMLS [mendelian.co]

  LBSL in a 12-year-old boy with ataxia and mild developmental delay. [pubs.rsna.org]

• 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]

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]

Metabolic workup including plasma aminoacids, acylcarnitine and lactate, urinary organic acids and orotic acid was unrevealing except for low levels of citrulline (9 μmol/l; n.r.17-53). [doi.org]

Therefore, its presence within the clinical context of possible PMD requires further workup (87). [pubs.rsna.org]

[…] and / or evaluation of the effectiveness of a treatment for mitochondrial diseases and MELAS. [patents.google.com]

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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.org]

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]

[…] 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]

Given the high morbidity and mortality of MELAS syndrome finding new treatments capable it is necessary to improve the prognosis of the disease. [patents.google.com]

According to the data so far, having a percentage of mutant mtDNA 30% or > 80% is predictive of a reasonable chance of a good or bad prognosis, respectively [ 103 ]. Any results in between these limits would be of even less certain predictive value. [em-consulte.com]

Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies. J Biomed Sci 2002;9(6 Pt 1):527–533. Crossref, Medline, Google Scholar 109. McKelvie P, Infeld B, Marotta R, Chin J, Thorburn D, Collins S. [pubs.rsna.org]

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]

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]

[…] 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]

Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 2001;106(1):94–101. Crossref, Medline, Google Scholar 37. Marin SE, Haas RH. Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). [pubs.rsna.org]

The active principles selected in the initial screening in yeast were subsequently evaluated for their ability to enhance the pathophysiological changes in fibroblasts and cybrids MELAS. [patents.google.com]

Pathophysiology of exercise in a novel human muscle oxidative defect. J Clin Invest, 88:1197-206, 1991. Rustin P, Lebidois J, Chretien D, Bourgeron T, Piechaud JF, Rotig A, Sidi D, Munnich A. [periodicos.unifesp.br]

The identification of the disease-causing genes is not only important for genetic counselling and prenatal diagnosis, but also for a greater understanding of the pathophysiology of these disorders. [em-consulte.com]

Additional studies have involved their use in the possible prevention of, and therapy for, disease conditions. [books.google.com]

(C) Point mutation of tRNA Leu (UUR), which prevents modification of a uridine taurine anticodon wobble position, resulting in an abnormal pattern recognition codon. [patents.google.com]

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]

In this case, prenatal diagnosis based on chorionic villi or amniotic cells represents a rational approach to the prevention of these serious disorders. [em-consulte.com]

Hence, sequencing and deletion or duplication analysis of POLG gene activity is currently the best diagnostic approach to preventing valproic acid–induced liver failure and patient death (33). Imaging Findings. [pubs.rsna.org]