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Combined Oxidative Phosphorylation Deficiency Type 3

Fatal Mitochondrial Disease due to Combined Oxidative Phosphorylation Deficiency Type 3


  • The first subgroup, with neonatal presentation, is characterized by cardiomyopathy and is frequently fatal in early life. The second subgroup presents in infancy, with hypoketosis and hypoglycaemia, and frequently mimics Reye-Syndrome [ 111 , 112 ].[bioscirep.org]
  • 168566 Synonym(s): Fatal mitochondrial disease due to COXPD3 Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy , Neonatal ICD-10: E88.8 OMIM: 610505 UMLS: C1864840 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented[orpha.net]
  • Similar to other described cases, our patient presented with early-onset failure to thrive, as well as encephalopathy and elevated blood lactate (Table 1 ).[frontiersin.org]
  • Conclusions: We report an autopsy case of the C12orf65 mutation, and findings suggest that mitochondrial dysfunction may underlie the unique clinical presentations.[ng.neurology.org]
  • Treatment is typically supportive based on presenting symptoms.[malacards.org]
Progressive Polyneuropathy
  • polyneuropathy) ( Angelini et al 1993 ; Sonam et al 2014 ; Alston et al 2015 ; Courage et al 2017 ), and late-onset progressive neurodegeneration ( Taylor et al 1996 ).[medlink.com]
  • polyneuropathy type) 613710 606521 Autosomal recessive SLC25A19 17q25.1 Microcephaly, Amish type 607196 606521 Autosomal recessive SLC25A20 3p21.31 Carnitine-acylcarnitine translocase deficiency 212138 613698 Autosomal recessive SLC25A22 11p15.5 Epileptic[mnglabs.com]
  • SLC25A19 G:606521 GR-Bell Microcephaly, Amish type, 607196 (3) SLC25A19 G:606521 GR-Bell Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3) SLC25A2 G:608157 . . SLC25A20 G:613698 .[usegalaxy.org]
  • CAMP G:600474 . . CAMSAP1 G:613774 . . CAMSAP2 G:613775 . . CAMSAP3 G:612685 . . CAMTA1 G:611501 . . CAMTA2 G:611508 . . CAND1 G:607727 . . CAND2 G:610403 . . CANDN1 P:607644 . . CANT1 G:613165 . Desbuquois dysplasia, 251450 (3) CANX G:114217 . .[usegalaxy.org]
  • At 2 months old, she developed paroxysms of irritability that evolved into a persistently irritable state with inconsolable crying, opisthotonic posturing, feeding difficulties, and failure to thrive.[frontiersin.org]
  • Neurologic examination revealed ophthalmoplegia, optic atrophy, dysphagia, distal dominant muscle weakness and atrophy, hyperreflexia at patellar tendon reflex, hyporeflexia at Achilles tendon reflex, and extensor plantar reflexes.[ng.neurology.org]
  • 3 1 Myopathy, Congenital, Compton-North 4 Myopathy, Distal, 1 3 Myopathy, Distal, 2 3 Myopathy, Distal, 4 2 Myopathy, Distal, Tateyama Type 1 Myopathy, Distal, With Anterior Tibial Onset 3 Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia[preventiongenetics.com]
  • 613443 600662 Autosomal dominant MEFV 16p13.3 Familial Mediterranean fever, AR 249100 608107 Autosomal recessive MEFV 16p13.3 Familial Mediterranean fever, AD 134610 608107 Autosomal dominant MEGF10 5q23.2 Myopathy, areflexia, respiratory distress, and dysphagia[mnglabs.com]
  • Myopathy, early-onset, areflexia, respiratory distress, and dysphagia, 614399 (3) MEGF11 G:612454 . . MEGF6 G:604266 . . MEGF8 G:604267 . . MEGF9 G:604268 . . MEHMO P:300148 . . MEI1 G:608797 . . MEIG1 G:614174 . . MEIS1 G:601739 . .[usegalaxy.org]
Onset in Infancy or Childhood
  • Leigh’s Disease is a progressive neurometabolic disorder with a general onset in infancy or childhood, often after a viral infection, but can also occur in teens and adults.[umdf.org]
Neurologic Manifestation
  • manifestations (psychiatric abnormalities, optic atrophy , oculomotor abnormalities, progressive polyneuropathy) ( Angelini et al 1993 ; Sonam et al 2014 ; Alston et al 2015 ; Courage et al 2017 ), and late-onset progressive neurodegeneration ( Taylor[medlink.com]
Steppage Gait
  • According to medical records, neurologic examinations revealed bilateral optic atrophy, exotropia, weakness in both tibialis anterior muscles, steppage gait, and hyperreflexia at patellar reflex.[ng.neurology.org]


  • Here we describe the clinical features and diagnostic workup of an infant who presented with an early onset severe encephalopathy resulting from combined deficiencies of OXPHOS due to recessive mutations (including one novel variant) in a nuclear gene[frontiersin.org]
Enlargement of the Liver
  • The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Menkes Disease July 9, 2018 by Peter[checkrare.com]


  • The final section exclusively addresses the management of cardiovascular genetic disorders, specifically considering stem cell therapy, genetic counseling, pharmacogenomics and the social and ethical issues surrounding disease treatment.[books.google.com]
  • Treatment: As with all mitochondrial diseases, there is no cure for Complex I deficiency.[umdf.org]
  • 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]
  • There are no cures for these diseases, but treatments may help with symptoms and slow down the disease. They may include physical therapy, vitamins and supplements, special diets, and medicines.[medlineplus.gov]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]


  • 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]
  • […] 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]
  • Although the previously reported cases consisted of early onset, rapidly progressive and ultimately fatal diseases, the patient described here seems to show a more benign phenotype, though the pathophysiology and prognosis remain unclear.[frontiersin.org]
  • Several patients with the COXPD7 phenotype and a short C12orf65 protein experienced respiratory failure in the first or second decade of life. 1 In comparison, our patient's respiratory ability was well preserved, and the prognosis was relatively good[ng.neurology.org]
  • VLCAD deficiency can be classified into three main subgroups based on age of onset, each of which correlates closely with clinical severity and prognosis.[bioscirep.org]


  • However, in many cases of type B lactic acidosis, occult tissue hypoperfusion is now recognized to accompany the primary etiology. Type B is divided into 3 subtypes based on underlying etiology.[emedicine.medscape.com]
  • Many tissues and organs are affected in metabolic diseases, often severally, and understanding the etiology of some of these more atypical symptoms challenges existing paradigms in diagnosis.[centogene.com]


  • Relevant External Links for AARS2 Genetic Association Database (GAD) AARS2 Human Genome Epidemiology (HuGE) Navigator AARS2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: AARS2 No data available for Genatlas for AARS2 Gene Exome sequencing[genecards.org]
  • 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]
  • Data from combined studies has involved 2,000,000 samples from routine analyses and international screening programs of roughly 7,000 patients diagnosed with different LSDs demonstrates our expertise in these diseases including precise epidemiological[centogene.com]
Sex distribution
Age distribution


  • Pathophysiologic classification of lactic acidosis. Go to Acute Lactic Acidosis for complete information on this topic. Hyperlactatemia versus lactic acidosis The normal blood lactate concentration in unstressed patients is 0.5-1 mmol/L.[emedicine.medscape.com]
  • Although the previously reported cases consisted of early onset, rapidly progressive and ultimately fatal diseases, the patient described here seems to show a more benign phenotype, though the pathophysiology and prognosis remain unclear.[frontiersin.org]


  • IT inhibits around site II and block electron flow between cytochromes b and c1, which prevents ATP synthesis coupled to the generation og a proton gradient. at site II.[biochemden.com]
  • Prevents pick up of oxygen to allow complete cellular respiration (no transfer of electrons to oxygen from complex IV) -Inhibition of cytochrome oxidase halts the ETC and therefore proton pumping.[quizlet.com]

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