Combined oxidative phosphorylation deficiency 1
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Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.
Beskrivning
Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.
Most people with combined oxidative phosphorylation deficiency 1 have severe brain dysfunction (encephalopathy) that worsens over time; they also have difficulty growing and gaining weight at the expected rate (failure to thrive). In some cases, affected individuals have abnormal muscle tone (increased or decreased), developmental delay, seizures, loss of sensation in the limbs (peripheral neuropathy), and an unusually small head (microcephaly). Liver disease is common in people with combined oxidative phosphorylation deficiency 1, with individuals quickly developing liver failure. Individuals with this condition also usually have a potentially life-threatening buildup of a chemical called lactic acid in the body (lactic acidosis).
The neurological features of combined oxidative phosphorylation deficiency 1 are largely due to brain abnormalities that include thinning of the tissue that connects the two halves of the brain (corpus callosum hypoplasia) and loss of brain tissue called white matter (leukodystrophy), particularly in an area of the brain called the basal ganglia, which normally helps control movement.
Individuals with combined oxidative phosphorylation deficiency 1 usually do not survive past early childhood, although some people live longer.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
COXPD1
Early fatal progressive hepatoencephalopathy
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Related patient information and medicines
Patient information leaflet
Can I take Magnesium and Vitamin C together?
Kidney stones (renal calculi) High doses of vitamin C can increase the amount of oxalate in your urine, which significantly raises the risk of developing kidney stones, especially if you have had them before. G6PD deficiency Very high doses of vitamin C can cause oxidative stress och lead to the breakdown of red blood cells (haemolysis) in.
Patient information leaflet
Kan jag ta Vitamin C och Vitamin D tillsammans?
Hypercalcaemia (high blood calcium) You must not take Vitamin D if you have high levels of calcium in your blood or urine, as it can cause calcium to build up in your body and damage your kidneys or heart. G6PD deficiency Very high doses of vitamin C can cause oxidative stress och lead to the breakdown of red blood cells (haemolysis) in.
Patient information leaflet
Kan jag ta Vitamin B12 och Vitamin C tillsammans?
Important precautions Kidney stones High doses of vitamin C c... G6PD deficiency Very high doses of vitamin C can cause oxidative stress and lead to the breakdown of red blood cells (haemolysis) in individuals with G6PD deficiency. Food and drink warnings Alcohol It is best to avoid or strictly limit alcohol while taking Vitamin B12. Our Medicines.
Patient information leaflet
Kan jag ta Ramipril och Vitamin C tillsammans?
Why this happens Ramipril is an ACE inhibitor used for blood pressure, and Vitamin C is a water-soluble vitamin. Kidney stones (renal calculi) High doses of vitamin C can increase the amount of oxalate in your urine, which significantly ... G6PD deficiency Very high doses of vitamin C can cause oxidative stress and lead to the breakdown of red.
Patient information leaflet
Kan jag ta Oestrogel pump-pack och Vitamin C tillsammans?
Kidney stones (renal calculi) High doses of vitamin C can increase the amount of ... G6PD deficiency Very high doses of vitamin C can cause oxidative stress and lead to the breakdown of red blood cells (haemolysis) in individuals with G6PD deficiency. Food and drink warnings Alcohol It is best to avoid or strictly limit alcohol while using these.
Patient information leaflet
Kan jag ta vitamin C och gurkmeja med svartpeppar tillsammans?
Gallstones or bile duct obstruction Turmeric can cause the gallbladder to contract, which may worsen symptoms or cause pain if you have gallstones or a blocked bile duct. G6PD deficiency Very high doses of vitamin C can cause oxidative stress and lead to the breakdown of red blood cells (haemolysis) in individuals with G6PD deficiency. Food and.
Vidare läsning och referenser
- Combined oxidative phosphorylation deficiency 1; MedlinePlus, National Library of Medicine.
- Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum Mol Genet. 2006 Jun 1;15(11):1835-46. doi: 10.1093/hmg/ddl106. Epub 2006 Apr 21.
- Balasubramaniam S, Choy YS, Talib A, Norsiah MD, van den Heuvel LP, Rodenburg RJ. Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1. JIMD Rep. 2012;5:113-22. doi: 10.1007/8904_2011_107. Epub 2011 Dec 21.
- Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernandez-Marmiesse A, Palacios L, Jou C, Jimenez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW. Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. Front Genet. 2015 Mar 23;6:102. doi: 10.3389/fgene.2015.00102. eCollection 2015.
- Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med. 2004 Nov 11;351(20):2080-6. doi: 10.1056/NEJMoa041878.
- Ravn K, Schonewolf-Greulich B, Hansen RM, Bohr AH, Duno M, Wibrand F, Ostergaard E. Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations. Mol Genet Metab Rep. 2015 Feb 20;3:5-10. doi: 10.1016/j.ymgmr.2015.01.004. eCollection 2015 Jun.
- Smits P, Antonicka H, van Hasselt PM, Weraarpachai W, Haller W, Schreurs M, Venselaar H, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. Eur J Hum Genet. 2011 Mar;19(3):275-9. doi: 10.1038/ejhg.2010.208. Epub 2010 Dec 1.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Sept 2017 | Ursprungligen publicerad
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