Symptoma

Fatal Infantile Cytochrome C Oxidase Deficiency

Cardioencephalomyopathy

[…] cardioencephalomyopathy due to cytochrome C oxidase deficiency Prevalence: - Inheritance: - Age of onset: Infancy, Neonatal ICD-10: G71.3 OMIM: 604377 615119 616500 616501 UMLS: C1858424 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Acronym CEMCOX1 Synonyms Cytochrome c oxidase deficiency with fatal infantile cardioencephalomyopathy Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

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

Patients can present with a number of different clinical phenotypes, including Leigh syndrome, Fatal infantile cardioencephalomyopathy, and Leber hereditary optic neuropathy. dcterms:identifier kegg:H01368 void:inDataset Bio2RDF identifier H01368 Bio2RDF [bio2rdf.org]

  • Feeding Difficulties

    Oxidase Deficiency 1 Synonyms CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY Classification genetic, metabolism Phenotypes Autosomal recessive inheritance ; Basal ganglia gliosis ; Congenital onset ; Death in infancy ; Feeding [mousephenotype.org]

    difficulties Hypotonia 20/12 No Proximal LL, Distal LL Yes (NGT feeds) No Yes 394 4.3 ND ND 2 13y - UK 8/52 Feeding difficulties Hypotonia 18/12 No Yes (NGT feeds) No Yes 634 3.18 ND ND 2 3 22y M UK 10/52 Feeding and Respiratory difficulties Hypotonia [ncbi.nlm.nih.gov]

    Results Patients presented with subacute onset of profound hypotonia, feeding difficulties and lactic acidosis within the first months of life. Although recovery was remarkable, a mild myopathy persisted into adulthood. [jmg.bmj.com]

    Encephalopathy is manifested by motor delay, mental retardation, progressive cognitive decline, seizures, and feeding difficulties. [dovepress.com]

    […] translation 15q22.31 AR LS [lxx] MTO1 614667 tRNA modification 6q13 AR Cardiomyopathy [lxxi] TRMT5 611023 mitochondrial tRNA methylation 14q23.1 AR Cardiomyopathy/exercise intolerance [lxxii] TRMT10C 615423 TRNA Methyltransferase 3q12.3 AR Hypotonia, feeding [mitomap.org]

  • Feeding Difficulties

    Oxidase Deficiency 1 Synonyms CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY Classification genetic, metabolism Phenotypes Autosomal recessive inheritance ; Basal ganglia gliosis ; Congenital onset ; Death in infancy ; Feeding [mousephenotype.org]

    difficulties Hypotonia 20/12 No Proximal LL, Distal LL Yes (NGT feeds) No Yes 394 4.3 ND ND 2 13y - UK 8/52 Feeding difficulties Hypotonia 18/12 No Yes (NGT feeds) No Yes 634 3.18 ND ND 2 3 22y M UK 10/52 Feeding and Respiratory difficulties Hypotonia [ncbi.nlm.nih.gov]

    Results Patients presented with subacute onset of profound hypotonia, feeding difficulties and lactic acidosis within the first months of life. Although recovery was remarkable, a mild myopathy persisted into adulthood. [jmg.bmj.com]

    Encephalopathy is manifested by motor delay, mental retardation, progressive cognitive decline, seizures, and feeding difficulties. [dovepress.com]

    […] translation 15q22.31 AR LS [lxx] MTO1 614667 tRNA modification 6q13 AR Cardiomyopathy [lxxi] TRMT5 611023 mitochondrial tRNA methylation 14q23.1 AR Cardiomyopathy/exercise intolerance [lxxii] TRMT10C 615423 TRNA Methyltransferase 3q12.3 AR Hypotonia, feeding [mitomap.org]

  • Death in Infancy

    Due To Cytochrome C Oxidase Deficiency 1 Synonyms CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY Classification genetic, metabolism Phenotypes Autosomal recessive inheritance ; Basal ganglia gliosis ; Congenital onset ; Death [mousephenotype.org]

  • Death in Infancy

    Due To Cytochrome C Oxidase Deficiency 1 Synonyms CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY Classification genetic, metabolism Phenotypes Autosomal recessive inheritance ; Basal ganglia gliosis ; Congenital onset ; Death [mousephenotype.org]

  • Malnutrition

    Wetterling Summary A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. [link.springer.com]

    Physiotherapy and pharmacotherapy for neuromuscular concerns, appropriate feeding methods to prevent malnutrition and aspiration, and aggressive treatment of fever and infections are further important treatment parameters to hopefully improve quality [dovepress.com]

  • Respiratory Distress

    distress Associated Genes SCO2 (Withdrawn symbols: MYP6, SCO1L ) Mouse Orthologs Sco2 Source OMIM:604377 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse [mousephenotype.org]

    Distress 1 Spinal Muscular Atrophy, Diaphragmatic DSMA1 DHMN6 HMN VI HMN6 SIANRF SMARDI 604320 Genetic Test Registry Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 Neuronopathy, Distal Hereditary Motor, Jerash Type Neuropathy, Distal Hereditary [ukgtn.nhs.uk]

  • Abnormal Breathing

    Most patients also show neurologic abnormalities, such as abnormal breathing pattern, nystagmus, and gyral abnormalities, consistent with encephalopathy. The disorder is usually fatal in early infancy (summary by Papadopoulou et al., 1999). [ncbi.nlm.nih.gov]

    The following neurological stigmata are also frequently seen: abnormal breathing, nystagmus and gyral abnormalities. The disorder is usually fatal in early infancy. Those with mutations in the SCO2 gene, tend to have a more severe disease. [bredagenetics.com]

  • Muscle Hypotonia

    A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Human Molecular Genetics 22, 656-667. [mitomap.org]

  • Withdrawn

    […] cardiomyopathy ; Increased CSF lactate ; Increased serum lactate ; Lactic acidosis ; Limited extraocular movements ; Muscular hypotonia ; Neuronal loss in basal ganglia ; Neuronal loss in central nervous system ; Respiratory distress Associated Genes SCO2 (Withdrawn [mousephenotype.org]

  • Gliosis

    Definition A disorder characterized by hypotonia, developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, neuronal loss in basal ganglia, brainstem and spinal cord, and cytochrome c oxidase deficiency. [uniprot.org]

    Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1 Synonyms CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY Classification genetic, metabolism Phenotypes Autosomal recessive inheritance ; Basal ganglia gliosis [mousephenotype.org]

    Defects in Sco2 are the cause of fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) (OMIM:604377, OMIM:220110), which is characterised by hypertrophic cardiomyopathy, lactic acidosis, and gliosis. [ebi.ac.uk]

    Characteristic neuropathology includes spongiform lesions with relative preservation of neurons, associated with demyelination and gliosis. 12 These lesions, often accompanied by demyelination, are seen bilaterally and symmetrically throughout the brain [dovepress.com]

More Symptoms of Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 4 » • • • Back to: « Cardioencephalomyopathy Fatal infantile Due to cytochrome c oxidase deficiency Treatments See also the following treatment articles [familydiagnosis.com]

This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations. [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Prevention - Infantile myopathy and lactic acidosis Diagnosis - Infantile myopathy and lactic acidosis Prognosis - Infantile myopathy and lactic acidosis Treatment - Infantile myopathy and lactic acidosis Resources - Infantile myopathy and lactic acidosis [checkorphan.org]

The prognosis for MELAS is poor. Typically, the age of death is between 10 to 35 years, although some patients may live longer. [umdf.org]

Diagnosing this disorder at the molecular level is a significant advance for paediatric neurologists and intensive care paediatricians, enabling them to select children with an excellent prognosis for continuing respiratory support from those with severe [jmg.bmj.com]

Cytochrome C oxidase-negative muscle fibers 0003688 Decreased liver function Liver dysfunction 0001410 Exercise intolerance Decreased ability to exercise Inability to exercise [4] Treatment generally does not reverse any damage that has already occurred. [3] Prognosis [rarediseases.info.nih.gov]

The recognition of this unique mitochondrial disease is very important because of its favourable prognosis compared to other forms of infantile COX deficiency. [ncbi.nlm.nih.gov]

Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.com]

Enormous progress has been made in the identification of genes involved in the etiology of inherited cardiovascular diseases. [centogene.com]

However, some cases do demonstrate involvement of the anterior putamen, dorsal mesencephalon, and dorsal pons. 36, 68 The etiology of the heterogeneity of MRI findings within and between specific genetic etiologies is not clear. [dovepress.com]

In one family, the genetic etiology still remains unknown. Conclusions Benign COX deficiency is better described as “Reversible Infantile Respiratory Chain Deficiency”. [ncbi.nlm.nih.gov]

Epidemiology of congenital neutropenia. Hematol. Oncol. Clin. North Am. 27, 1–17 (2013). 4. Carlsson, G. et al. Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. Br. J. [nature.com]

The incidence is unknown, although the epidemiological studies of the MELAS-3243 mtDNA mutation have estimated the prevalence to be 1-16/100,000 in the adult population. There is no cure or specific treatment for MELAS. [umdf.org]

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. [ncbi.nlm.nih.gov]

Although the book’s primary focus is on practical diagnosis and management, the pathophysiology of PID is also discussed. [link.springer.com]

Pathophysiology and treatment of severe chronic neutropenia. Ann. Hematol. 72, 158–165 (1996). 78. Germeshausen, M., Ballmaier, M. & Welte, K. [nature.com]

This wide range of components of mitochondrial pathophysiology produces a spectrum of disease. [dovepress.com]

Homoplasmy for the m.14674T C mt-tRNA Glu mutation was the rule in our patients and their asymptomatic mothers, as in the previous study; hence, the pathophysiology of this disorder appears to be unique because the reversibility is completely unexplained [ncbi.nlm.nih.gov]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

Prevention - Infantile myopathy and lactic acidosis Diagnosis - Infantile myopathy and lactic acidosis Prognosis - Infantile myopathy and lactic acidosis Treatment - Infantile myopathy and lactic acidosis Resources - Infantile myopathy and lactic acidosis [checkorphan.org]

Screening and prevention of colorectal cancer Source: Finnish Medical Society Duodecim This article is freely available only to users in the UK. [evidence.nhs.uk]

Early diagnosis is relevant for timely treatment and prevention of fatal complications such as arterial dissection/rupture. Congenital heart diseases (CHD) account for 1% of all live births per year and the prevalence is increasing. [centogene.com]

Diagnosis, screening and prevention (D.C.D., K.W. and J.S.); Management (C.Z., K.W. and J.S.); Quality of life (C.Z. and K.W.); Outlook (K.W. and J.S.); Overview of the Primer (K.W.). [nature.com]