Symptoma

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

Benign COX deficiency

On electron microscopy, the abnormal mitochondria present on the first biopsy specimen had disappeared both in muscle fibers and blood vessels; nearly all mitochondria were morphologically normal at the second biopsy. [ncbi.nlm.nih.gov]

The abnormal muscle and mitochondrial morphology in a variety of clinical presentations from isolated ophthalmoplegia to severe encephalopathy are also elaborated. [books.google.com]

She remained welluntil the age of 34 years when she re-presented with symptoms ofmuscle weakness. [docslide.com.br]

Abstract Two siblings, a boy and a girl born in a nonconsanguineous marriage, presented with a similar clinical course. Sucking and breathing difficulties appeared within a few weeks of birth. [adc.bmj.com]

[…] in adult life Clinical features: May present in adulthood Optic atrophy Growth retardation Spasticity Pulmonary edema KSS like presentation Coenzyme Q10 (CoQ) Deficiency Onset may present in midlife: Encoded by nuclear genome Transfers electron from [neurodiffdx.com]

  • Malnutrition

    On correcting this the baby improved rapidly and survived. 2, 3 Hypocalcaemia associated with Kwashiorkor, and malnutrition should be thought of. 4 Hypocalcaemia due to repeated blood transfusions in a Thalassemia patient has been reported to cause a [medcraveonline.com]

  • Gastric Pain

    Reichmann, Adult Onset Lipid Storage in Gastric Mucosa and Skeletal Muscle Fibers Associated with Gastric Pain, Progressive Muscle Weakness and Partial Deficiency of Cytochrome C Oxidase, Pathology - Research and Practice, 187, 1, (85), (1991). [doi.org]

  • Macroglossia

    Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months… CONTINUE READING [semanticscholar.org]

    At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 8 1/2 months of cardiac arrest. [unboundmedicine.com]

    Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. [doi.org]

  • High Arched Palate

    Two patients had facial muscle involvement and high-arched palate. [pediatricneurologybriefs.com]

  • Petechiae

    M.Teresa García-Silva, Antonia Ribes, Yolanda Campos, Barbara Garavaglia and Joaquin Arenas, Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria, Pediatric Neurology, 17, 2, (165), (1997). Mohammed Ghamdi, Dawna L. [doi.org]

  • Muscle Hypotonia

    Clinically, patients had severe generalized muscle hypotonia and weakness from birth to 3 months of age. Two patients had facial muscle involvement and high-arched palate. [pediatricneurologybriefs.com]

    At age 7 months neurological examination revealed marked generalized muscle weakness and wasting, diffuse muscle hypotonia and no deep tendon reflexes. [docslide.net]

  • Muscle Hypotonia

    Clinically, patients had severe generalized muscle hypotonia and weakness from birth to 3 months of age. Two patients had facial muscle involvement and high-arched palate. [pediatricneurologybriefs.com]

    At age 7 months neurological examination revealed marked generalized muscle weakness and wasting, diffuse muscle hypotonia and no deep tendon reflexes. [docslide.net]

  • Areflexia

    At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 8 1/2 months of cardiac arrest. [unboundmedicine.com]

    […] thiamine pyrophosphokinase 230 deficiency/Thiamine Metabolism Dysfunction Syndrome-5 (THMD5), Spinocerebellar ataxia-28 (SCA28), autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN), Dominant Optic Atrophy (DOA), cerebellar ataxia, areflexia [brevets-patents.ic.gc.ca]

  • Hyporeflexia

    Richard Koenigsberger and Darryl C Devivo}, journal {Annals of neurology}, year {1981}, volume {14 2}, pages { 226-34 } } Published in Annals of neurology 1981 DOI: 10.1002/ana.410140209 A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia [semanticscholar.org]

    Abstract A 2‐week‐old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. [doi.org]

  • Hyporeflexia

    Richard Koenigsberger and Darryl C Devivo}, journal {Annals of neurology}, year {1981}, volume {14 2}, pages { 226-34 } } Published in Annals of neurology 1981 DOI: 10.1002/ana.410140209 A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia [semanticscholar.org]

    Abstract A 2‐week‐old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. [doi.org]

Early diagnosis is crucial to provide intensive treatment until spontaneous clinical improvement appears. [ncbi.nlm.nih.gov]

Olfactory cell lines may provide a cell model forthe future assessment of pharmacological agents that are developedfor the treatment of MNGIE syndrome.doi:10.1016/j.jocn.2010.07.05757. [docslide.com.br]

However, while the mechanism of action of GCs in the treatment of MIDs remains largely unknown, there are indications that GCs act not only in the nucleus but also in mitochondria.( 3, 4 ) Herein, we summarise and discuss the role of GCs in the treatment [smj.org.sg]

Most of the gene defects in this group of patients remain unknown and there are no effective treatments. [ncl.ac.uk]

This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis. [f1000.com]

Neonatal cardiomyopathies commonly are associated with poor prognosis, and the underlying etiology of this disorder differs considerably from cardiomyopathies in older children, adolescents, and adults with similar phenotypes. [journals.lww.com]

Mitochondrial myopathies generally have a bad prognosis. But recently Horvath et al., 20 have described the genetics of a rare but strangely, relatively benign form of mitochondrial myopathy.” [medcraveonline.com]

This simple genetic test is of critical importance for prognosis and management of these infants because the benign form is initially life threatening but ultimately reversible. [mafiadoc.com]

View Article PubMed PubMed Central Google Scholar Wang P, Mai C, Wei YL, Zhao JJ, Hu YM, Zeng ZL, Yang J, Lu WH, Xu RH, Huang P: Decreased expression of the mitochondrial metabolic enzyme aconitase (ACO2) is associated with poor prognosis in gastric cancer [cancerandmetabolism.biomedcentral.com]

Neonatal cardiomyopathies commonly are associated with poor prognosis, and the underlying etiology of this disorder differs considerably from cardiomyopathies in older children, adolescents, and adults with similar phenotypes. [journals.lww.com]

Mitochondrial disease--its impact, etiology, and pathology. Curr Top Dev Biol 77:113-55 Phoenix C; Schaefer AM; Elson JL; Morava E; Bugiani M; Uziel G; Smeitink JA; Turnbull DM; McFarland R, 2006. [newcastle-mitochondria.com]

Is the tRNALeu(UUR) gene an etiologic hot spot?". The Journal of Clinical Investigation 92(6):2906-2915. 156. Moraes, C. T., Ciacci, F., Silverstri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E. and DiMauro, S. (1993). [mitomap.org]

[…] deficiency - Reversible infantile cytochrome c oxidase deficiency - Reversible infantile respiratory chain deficiency Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

"Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes". [mitomap.org]

Schon and Salvatore DiMauro, Primary Disorders of Mitochondrial DNA and the Pathophysiology of mtDNA-Related Disorders, Mitochondria in Pathogenesis, 10.1007/0-306-46835-2_3, (53-80), (2002). Rachel A. Nardin and Donald R. [doi.org]

Sepsis–induced cardiomyopathy: a review of pathophysiologic mechanisms. Heart Fail Rev. 2010;15(6):605–611. Parker MM, Shelhamer JH, Bacharach SL, et al. Profound but Reversible myocardial depression in patients with septic shock. [medcraveonline.com]

"Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease". Cell 55(4):601-610. [mitomap.org]

A method for treating or preventing a mitochondrial disease or disorder in a subject in need thereof, comprising administering to the subject a therapeutically effective amount of a catechol derivative or a pharmaceutically acceptable salt thereof, in [brevets-patents.ic.gc.ca]

View Article PubMed Google Scholar Dasgupta S, Hoque MO, Upadhyay S, Sidransky D: Forced cytochrome B gene mutation expression induces mitochondrial proliferation and prevents apoptosis in human uroepithelial SV-HUC-1 cells. [cancerandmetabolism.biomedcentral.com]