Ethylmalonic encephalopathy
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurological signs and symptoms include delayed development and the loss of previously acquired skills (developmental regression), weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels (the vascular system) is also affected. Children with this disorder often develop rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy.
Descripción
Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurological signs and symptoms include delayed development and the loss of previously acquired skills (developmental regression), weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels (the vascular system) is also affected. Children with this disorder often develop rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy.
The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or begin in the first few months of life. Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Encephalopathy, petechiae, and ethylmalonic aciduria
EPEMA syndrome
Related patient information and medicines
Patient information leaflet
Enfermedad celíaca
Enfermedad celíaca (also spelled celiac disease) mainly affects the part of the gut called the small intestine. It can occur at any age. Coeliac disease is caused by a reaction of the gut to gluten. (For this reason it is sometimes also called gluten-sensitive enteropathy). Gluten is part of certain foods - mainly foods made from wheat, barley and.
Patient information leaflet
Insuficiencia hepática
Releasing bile, which passes into the gut (bowel) to help break d... How common is liver failure. Acute liver failure is very uncommon: In England , there were 688 liver transplants, 28 in Scotland, 69 in Wales and 24 in Northern Ireland performed in the year April 2021 to April 2022. The number of transplants increased by 11% from the previous.
Patient information leaflet
Cirrosis
This can cause changes to personalit... Eventually it can lead to loss of consciousness and hepatic coma. These changes are known as hepatic encephalopathy. The scar tissue restricts the flow of blood through the liver and, as the cirrhosis becomes worse, this causes back pressure in the portal vein (known as portal hypertension). The portal vein.
Patient information leaflet
Trastorno por consumo de alcohol
Som... Stomach disorders. Severe inflammation of the pancreas (pancreatitis). Mental health problems, including depression , anxiety and various other problems. Wernicke's encephalopathy - un alcohol-related brain disorder treated with vitamin B1 (thiamine); Korsakoff syndrome is a chronic memory disorder caused by severe deficiency of vitamin B1,.
Patient information leaflet
sobredosis de paracetamol
¿Qué happens when you overdose on paracetamol. Paracetamol is usually taken by mouth and is available in tablet, caplet, soluble and liquid forms. The paracetamol passes via the stomach and intestine into the body and leads to pain relief and lowering of a high temperature (fever). After this, paracetamol is inactivated before being removed from.
Patient information leaflet
VIH y SIDA
In addition, people with AIDS have an increased risk of de... Kaposi's sarcoma is a cancer which is usually only seen in people with AIDS. There is also an increased risk of developing cancer of the neck of the womb (cervix) and lymphoma. An AIDS-related brain illness such as AIDS dementia (HIV encephalopathy). A severe body wasting syndrome. Many.
Lecturas adicionales y referencias
- Ethylmalonic encephalopathy; MedlinePlus, National Library of Medicine.
- Di Meo I, Fagiolari G, Prelle A, Viscomi C, Zeviani M, Tiranti V. Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy. Antioxid Redox Signal. 2011 Jul 15;15(2):353-62. doi: 10.1089/ars.2010.3520. Epub 2011 Feb 25.
- Drousiotou A, DiMeo I, Mineri R, Georgiou T, Stylianidou G, Tiranti V. Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. Clin Genet. 2011 Apr;79(4):385-90. doi: 10.1111/j.1399-0004.2010.01457.x.
- Garcia-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas J. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol. 1997 Sep;17(2):165-70. doi: 10.1016/s0887-8994(97)00048-9.
- Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M. ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet. 2006 Apr;43(4):340-6. doi: 10.1136/jmg.2005.036210. Epub 2005 Sep 23.
- Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet. 2004 Feb;74(2):239-52. doi: 10.1086/381653. Epub 2004 Jan 19.
- Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M, Zeviani M. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med. 2009 Feb;15(2):200-5. doi: 10.1038/nm.1907. Epub 2009 Jan 11.
- Tiranti V, Zeviani M. Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy. Cold Spring Harb Perspect Biol. 2013 Jan 1;5(1):a011437. doi: 10.1101/cshperspect.a011437.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.