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Combined Oxidative Phosphorylation Deficiency Type 24

Combined Oxidative Phosphorylation Deficiency 24


Presentation

  • This article highlights the phenotypic manifestations from a novel mutation in the C12orf65 gene and reviews the clinical presentation of the 5 other individuals reported to date who carry mutations in this gene.[collections.lib.utah.edu]
  • Seizures may be present at birth or within the first month of life. Edema of the feet, hands, and face are also present at birth. Cognitive deficits and motor delays are usually evident during infancy.[disorders.eyes.arizona.edu]
  • Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. {ECO:0000269 PubMed:25385316, ECO:0000269 PubMed:25629079}.[genecards.org]
  • Among 160 respiratory enzyme chain-deficient patients identified in our center, 40 percent were referred for a neuromuscular symptom and 60 percent presented with a nonneuromuscular disease. 1 Overall, the diagnosis of respiratory chain deficiency is[ommbid.mhmedical.com]
  • For instance, among the 500,000 copies of long interspersed element-1 (LINE1 or L1) present in the human genome, about 100 are retrotransposition-competent, and over 40 of them are highly active.[uniprot.org]
Epilepsy
  • , myoclonic, progressive, type 4, with or without renal failure (EPM-4) 254900 0 0 SCARB2 - - 04347 FAME-2;FMCTE-2 epilepsy, myoclonic, familial adult, type 2 (FAME-2) 607876 0 0 ADRA2B, STARD7 - - 05587 FAME-3;FMCTE-3 epilepsy, myoclonic, familial adult[databases.lovd.nl]
  • , juvenile myoclonic, susceptibility to, 8} 607628 600570 Autosomal dominant CLCN2 3q27.1 {Epilepsy, juvenile absence, susceptibility to, 2} 607628 600570 Autosomal dominant CLCN2 3q27.1 {Epilepsy, idiopathic generalized, susceptibility to, 11} 607628[mnglabs.com]
  • IRE 21q22.3 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300 A LDH3A2 17p11.2 Sjogren-Larsson syndrome 270200 A LDH5A1 6p22.3 Succinic semialdehyde dehydrogenase deficiency 271980 A LDH7A1 5q23.2 Epilepsy[institutobernabeu.com]
  • […] controlled vocabulary of human diseases New diseases: Amelogenesis imperfecta 1A Amelogenesis imperfecta 1H Charcot-Marie-Tooth disease 2T CODAS syndrome Combined oxidative phosphorylation deficiency 23 Combined oxidative phosphorylation deficiency 24 Epilepsy[uniprot.org]
  • ISCA2 Trichloroethylene toxicity Severe neonatal lactic acidosis with mtDNA depletion: SUCLG1 ; Multiple complex deficiencies Neonatal cardiomyopathy with lactic acidosis Portneuf spastic ataxia with leukoencephalopathy (SPAX3): MARS2 Microcephaly & Epilepsy[neuromuscular.wustl.edu]

Treatment

  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.[uniprot.org]
  • Mitoplasts, which were prepared from fibroblasts by treatment with 0.8 mg of digitonin per milligram of protein, were solubilized with 1 percent lauryl maltoside, and 10 to 20 μg of the solubilized protein was used for electrophoresis.[nejm.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]

Epidemiology

  • Relevant External Links for NARS2 Genetic Association Database (GAD) NARS2 Human Genome Epidemiology (HuGE) Navigator NARS2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NARS2 No data available for Genatlas for NARS2 Gene Mutations of[genecards.org]
Sex distribution
Age distribution

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