SUCLA2-related mitochondrial DNA depletion syndrome
अंतिम अद्यतन 19 जुलाई 2024
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Affected infants typically develop weak muscle tone (hypotonia) in the first few months of life. In these infants, hypotonia can delay the development of motor skills such as lifting the head and rolling over. Children with SUCLA2-related mtDNA depletion syndrome typically have difficulty eating and may require a feeding tube; as a result, they have difficulty growing and gaining weight as expected (failure to thrive).
विवरण
SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Affected infants typically develop weak muscle tone (hypotonia) in the first few months of life. In these infants, hypotonia can delay the development of motor skills such as lifting the head and rolling over. Children with SUCLA2-related mtDNA depletion syndrome typically have difficulty eating and may require a feeding tube; as a result, they have difficulty growing and gaining weight as expected (failure to thrive).
Additional features of SUCLA2-related mtDNA depletion syndrome can include uncontrolled movements (dystonia), hearing loss, muscle wasting (atrophy), and intellectual disabilities. In most affected children, a substance called methylmalonic acid builds up in the blood.
People with SUCLA2-related mtDNA depletion syndrome typically have a shortened lifespan. Approximately 30 percent of individuals with SUCLA2-related mtDNA depletion syndrome do not survive past childhood.
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 5 (encephalomyopathic with or without methylmalonic aciduria)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with or without methylmalonic aciduria, autosomal recessive, SUCLA2-related
MTDPS5
Succinate-CoA ligase deficiency
SUCLA2 deficiency
SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Related patient information and medicines
Patient information leaflet
क्री डू चैट सिंड्रोम
क्री डू चैट सिंड्रोम is 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.
Patient information leaflet
स्जोग्रेन सिंड्रोम
स्जोग्रेन सिंड्रोम is an 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
नेफ्रोटिक सिंड्रोम
नेफ्रोटिक सिंड्रोम is a condition where the 'filters' में the kidney become 'leaky' और large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. Treatment and.
Patient information leaflet
चक्राकार उल्टी सिंड्रोम
चक्राकार उल्टी सिंड्रोम है a condition which occurs mainly in children but can also affect adults. It is more common in people who have migraines. Children have severe episodes of feeling sick (nausea) and being sick (vomiting), sometimes with other symptoms. In between these episodes the person is completely well. There are various treatments.
Patient information leaflet
डाउन सिंड्रोम स्क्रीनिंग
There are two different types of tests that can be done to look for डाउन सिंड्रोम during pregnancy - a screening test and a diagnostic test. What is Down's syndrome. Down's syndrome is a genetic chromosome problem that some people are born with. A person with Down's syndrome can usually be recognised by their typical features. It can also cause.
Patient information leaflet
डाउन सिंड्रोम
Down's syndrome (also known as Down syndrome) is a genetic chromosome problem. Someone with Down's syndrome has an extra copy of chromosome 21 in the cells of their body. All people with Down's syndrome have some degree of learning disability. Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be.
अधिक पठन और संदर्भ
- SUCLA2-related mitochondrial DNA depletion syndrome; MedlinePlus, National Library of Medicine.
- Alberio S, Mineri R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito.2006.11.010. Epub 2006 Dec 5.
- Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14.
- Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16.
- El-Hattab AW, Scaglia F. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2009 May 26 [updated 2023 Sep 28]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK6803/
- Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet. 2005 Jun;76(6):1081-6. doi: 10.1086/430843. Epub 2005 Apr 22.
- Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain. 2007 Mar;130(Pt 3):853-61. doi: 10.1093/brain/awl383. Epub 2007 Feb 7.
- Ostergaard E. Disorders caused by deficiency of succinate-CoA ligase. J Inherit Metab Dis. 2008 Apr;31(2):226-9. doi: 10.1007/s10545-008-0828-7. Epub 2008 Apr 4.
- Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I, Zeviani M. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis. 2009 Apr;32(2):143-58. doi: 10.1007/s10545-008-1038-z. Epub 2008 Dec 27.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.