MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
آخر تحديث 26 يوليو 2023
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MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to thrive). Many affected infants have a buildup of a chemical called lactic acid in the body (lactic acidosis) and low blood glucose (hypoglycemia). Within the first weeks of life, infants develop liver disease that quickly progresses to liver failure. The liver is frequently enlarged (hepatomegaly) and liver cells often have a reduced ability to release a digestive fluid called bile (cholestasis). Rarely, affected children develop liver cancer. After the onset of liver disease, many affected infants develop neurological problems, which can include developmental delay, weak muscle tone (hypotonia), and reduced sensation in the limbs (peripheral neuropathy). Individuals with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome typically survive only into infancy or early childhood.
الوصف
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to thrive). Many affected infants have a buildup of a chemical called lactic acid in the body (lactic acidosis) and low blood glucose (hypoglycemia). Within the first weeks of life, infants develop liver disease that quickly progresses to liver failure. The liver is frequently enlarged (hepatomegaly) and liver cells often have a reduced ability to release a digestive fluid called bile (cholestasis). Rarely, affected children develop liver cancer. After the onset of liver disease, many affected infants develop neurological problems, which can include developmental delay, weak muscle tone (hypotonia), and reduced sensation in the limbs (peripheral neuropathy). Individuals with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome typically survive only into infancy or early childhood.
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is most frequently seen in the Navajo population of the southwestern United States. In this population, the condition is known as Navajo neurohepatopathy. People with Navajo neurohepatopathy tend to have a longer life expectancy than those with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. In addition to the signs and symptoms described above, people with Navajo neurohepatopathy may have problems with sensing pain that can lead to painless bone fractures and self-mutilation of the fingers or toes. Individuals with Navajo neurohepatopathy may lack feeling in the clear front covering of the eye (corneal anesthesia), which can lead to open sores and scarring on the cornea, resulting in impaired vision. The cause of these additional features is unknown.
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
Mitochondrial DNA depletion syndrome 6
MPV17-associated hepatocerebral MDS
MTDPS6
Navajo familial neurogenic arthropathy
Navajo neurohepatopathy
Navajo neuropathy
NNH
Related patient information and medicines
Patient information leaflet
متلازمة الكلوية
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Patient information leaflet
متلازمة الأجسام المضادة للفوسفوليبيد
متلازمة الأجسام المضادة للفوسفوليبيد is sometimes called Hughes' syndrome. It is a disease that affects the blood and makes it more likely to clot than normal - a thrombophilia. What is antiphospholipid syndrome. Antiphospholipid syndrome (APS) - also called Hughes' syndrome - makes blood more likely than normal to clot (a thrombophilia ). This increases the.
Patient information leaflet
متلازمة شوغرن
متلازمة شوغرن هو autoimmune disease that causes the glands that produce tears and saliva to stop working. It is a life-long condition but treatments can help control symptoms such as dry eyes and dry mouth. What is Sjögren's syndrome. Sjögren's syndrome is a condition that causes the tear and saliva glands to stop working. It causes dry.
Patient information leaflet
متلازمة جيلبرت
متلازمة جيلبرت is due to an inherited defect in processing bilirubin in the liver. Bilirubin is produced from the breakdown of red blood cells. When it cannot be cleared properly in the liver, its levels build up in the blood. What is Gilbert's syndrome. متلازمة جيلبرت - also known as constitutional hepatic dysfunction - is a condition.
Patient information leaflet
متلازمة أوسلر-ويبر-ريندو
Osler-Weber-Rendu syndrome is a disorder of the blood vessels that can cause excessive bleeding. Osler-Weber-Rendu syndrome is also called hereditary haemorrhagic telangiectasia. The abnormal blood vessels can cause bleeding both into the skin and inside your body. What is Osler-Weber-Rendu syndrome. People with Osler-Weber-Rendu syndrome can.
Patient information leaflet
متلازمة بكاء القط
متلازمة بكاء القط هو a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
قراءة إضافية ومراجع
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome; MedlinePlus, National Library of Medicine.
- El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab. 2010 Mar;99(3):300-8. doi: 10.1016/j.ymgme.2009.10.003. Epub 2009 Oct 13.
- Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet. 2006 Sep;79(3):544-8. doi: 10.1086/506913. Epub 2006 Jun 28.
- Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL, Shanske S, Ganesh J, Di Mauro S, Zeviani M. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol. 2008 Aug;65(8):1108-13. doi: 10.1001/archneur.65.8.1108.
- Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rotig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet. 2006 May;38(5):570-5. doi: 10.1038/ng1765. Epub 2006 Apr 2.
- Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology. 2007 Oct;46(4):1218-27. doi: 10.1002/hep.21799.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
26 يوليو 2023 | أحدث إصدار
1 Jan 2013 | نُشر في الأصل
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