Mitochondrial complex I deficiency
Zuletzt aktualisiert 18. Aug 2020
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. Complex I is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex I is the first of five mitochondrial complexes that carry out a multi-step process called oxidative phosphorylation, through which cells derive much of their energy.
Beschreibung
Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. Complex I is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex I is the first of five mitochondrial complexes that carry out a multi-step process called oxidative phosphorylation, through which cells derive much of their energy.
Mitochondrial complex I deficiency can cause a wide variety of signs and symptoms affecting many organs and systems of the body, particularly the nervous system, the heart, and the muscles used for movement (skeletal muscles). These signs and symptoms can appear at any time from birth to adulthood.
People with mitochondrial complex I deficiency typically have neurological problems, such as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary movements (dystonia). Affected individuals may have low muscle tone (hypotonia), muscle pain (myalgia), and extreme fatigue in response to physical activity (exercise intolerance). They tend to develop elevated levels of lactic acid in the blood (lactic acidosis), which can cause nausea, vomiting, weakness, and rapid breathing. In severe cases, lactic acidosis can be life-threatening.
People with mitochondrial complex I deficiency sometimes have heart, liver, or kidney problems. Vision problems due to abnormal eye movement or breakdown (degeneration) of the nerves that carry signals from the eyes to the brain (optic nerves) can also occur.
Some people with mitochondrial complex I deficiency have groups of signs and symptoms that are classified as a specific syndrome. For example, a condition called Leigh syndrome is most commonly caused by mitochondrial complex I deficiency. Leigh syndrome is characterised by progressive loss of mental and movement abilities (developmental or psychomotor regression) and typically results in death within 2 to 3 years from the onset of symptoms. Another condition that can be caused by mitochondrial complex I deficiency, Leber hereditary optic neuropathy, is associated mainly with vision problems due to optic nerve degeneration. These syndromes can also have other causes.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked; mitochondrial; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
NADH-coenzyme Q reductase deficiency
NADH:Q(1) oxidoreductase deficiency
Related patient information and medicines
Patient information leaflet
Eisenmangelanämie
Eisenmangelanämie is a common type of Anämie that is caused by a lack of iron. Symptoms include pale skin and lack of energy. A low level of iron, leading to anaemia, can result from various causes. Some are more serious than others. What is iron-deficiency anaemia. Anaemia means: You have fewer red blood cells than normal; or You have less.
Patient information leaflet
Niedriger Testosteronspiegel
Low testosterone in men (testosterone deficiency) is often part of the ageing process and therefore common in older men. It can also occur at any age as a result of conditions affecting the testicles or the pituitary gland in the brain. Low testosterone can be treated with testosterone replacement therapy. Any underlying cause for the testosterone.
Patient information leaflet
Gastrointestinale Malabsorption
Gastrointestinal malabsorption syndrome means a failure to fully absorb digested foods from the gut (bowel) into your body. There are many different causes. Prolonged intestinal malabsorption may cause problems because of a lack of carbohydrates, proteins, fats, minerals and vitamins that are essential to keep you healthy. The treatment will.
Patient information leaflet
Jodmangel
Iodine is essential for the body to make thyroid hormone. Low levels of iodine may cause an underactive thyroid gland and symptoms of hypothyroidism (eg, tiredness, constipation and weight gain). Iodine deficiency in pregnant women may cause problems for the baby, including learning disability. There has been a worldwide campaign to prevent iodine.
Patient information leaflet
Anämie
Anämie means that you have fewer red blood cells than normal or you have less haemoglobin than normal in each red blood cell. In either case, a reduced amount of oxygen is carried around in the bloodstream. Anaemia types and causes Iron-deficiency anaemia Lack of iron is the most common type of anaemia in the UK. This is called iron-deficiency.
Patient information leaflet
Alpha-1-Antitrypsin-Mangel
Alpha-1-Antitrypsin-Mangel ist ein inherited genetic condition. A genetic condition is one that can be passed on from parents through genes. In alpha-1 antitrypsin deficiency the result of a genetic abnormality leads to lung and, in some people, liver damage. Lung symptoms are the most common and include shortness of breath, cough and wheezing..
Weiterführende Lektüre und Referenzen
- Mitochondrial complex I deficiency; MedlinePlus, National Library of Medicine.
- Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics and pathology of mitochondrial disease. J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub 2016 Nov 2.
- Blanchet L, Buydens MC, Smeitink JA, Willems PH, Koopman WJ. Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. Curr Pharm Des. 2011 Dec 1;17(36):4023-33. doi: 10.2174/138161211798764870.
- Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain. 2009 Apr;132(Pt 4):833-42. doi: 10.1093/brain/awp058. Epub 2009 Mar 31.
- Fernandez-Vizarra E, Tiranti V, Zeviani M. Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects. Biochim Biophys Acta. 2009 Jan;1793(1):200-11. doi: 10.1016/j.bbamcr.2008.05.028. Epub 2008 Jun 21.
- Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V. Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. Int J Biochem Cell Biol. 2015 Aug;65:91-103. doi: 10.1016/j.biocel.2015.05.017. Epub 2015 May 27.
- Pagniez-Mammeri H, Loublier S, Legrand A, Benit P, Rustin P, Slama A. Mitochondrial complex I deficiency of nuclear origin I. Structural genes. Mol Genet Metab. 2012 Feb;105(2):163-72. doi: 10.1016/j.ymgme.2011.11.188. Epub 2011 Nov 18.
- Pagniez-Mammeri H, Rak M, Legrand A, Benit P, Rustin P, Slama A. Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. Mol Genet Metab. 2012 Feb;105(2):173-9. doi: 10.1016/j.ymgme.2011.10.001. Epub 2011 Oct 20.
- Vartak RS, Semwal MK, Bai Y. An update on complex I assembly: the assembly of players. J Bioenerg Biomembr. 2014 Aug;46(4):323-8. doi: 10.1007/s10863-014-9564-x. Epub 2014 Jul 17.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1 Oct 2017 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.