MELAS Syndrome (Syndrome, MELAS)

A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)

Also Known As:

Networked: 186 relevant articles (4 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Stroke (Strokes)
2.	Lactic Acidosis
3.	Mitochondrial Diseases (Mitochondrial Disease)
4.	Sensorineural Hearing Loss
5.	Mitochondrial Myopathies (Mitochondrial Myopathy)

Experts

1.	Scaglia, Fernando: 6 articles (09/2015 - 01/2006)
2.	El-Hattab, Ayman W: 5 articles (09/2015 - 04/2012)
3.	Craigen, William J: 4 articles (03/2014 - 04/2012)
4.	Emrick, Lisa T: 4 articles (03/2014 - 04/2012)
5.	Wei, Yau-Huei: 4 articles (07/2007 - 01/2002)
6.	Wei, Y H: 4 articles (12/2001 - 01/2000)
7.	Pang, C Y: 4 articles (12/2001 - 01/2000)
8.	Qi, Yu: 3 articles (04/2013 - 12/2008)
9.	Wong, Lee-Jun C: 3 articles (04/2012 - 06/2004)
10.	Lee, H C: 3 articles (12/2001 - 01/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to MELAS Syndrome:

1.	Arginine (L-Arginine)FDA Link 05/01/2009 - "[l-arginine efficiency in MELAS syndrome. " 03/01/2014 - "Controlled studies assessing the effects of arginine or citrulline supplementation on different clinical aspects of MELAS syndrome are needed. " 12/01/2013 - "In this study we evaluated the effect of arginine or citrulline on lactic acidemia in adults with MELAS syndrome. " 04/01/2012 - "This study aimed to assess NO production in subjects with MELAS syndrome and the effect of the NO precursors arginine and citrulline. " 03/01/2014 - "Both arginine and citrulline act as NO precursors and their administration results in increased NO production and hence can potentially have therapeutic utility in MELAS syndrome. "
2.	CitrullineIBA 03/01/2014 - "Controlled studies assessing the effects of arginine or citrulline supplementation on different clinical aspects of MELAS syndrome are needed. " 12/01/2013 - "In this study we evaluated the effect of arginine or citrulline on lactic acidemia in adults with MELAS syndrome. " 04/01/2012 - "This study aimed to assess NO production in subjects with MELAS syndrome and the effect of the NO precursors arginine and citrulline. " 03/01/2014 - "Both arginine and citrulline act as NO precursors and their administration results in increased NO production and hence can potentially have therapeutic utility in MELAS syndrome. " 03/01/2014 - "Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome."
3.	Mitochondrial encephalopathyIBA 01/01/1991 - "The muscular biopsy enables us to classify this case as a mitochondrial encephalopathy similar to the MELAS syndrome. " 10/01/2008 - "Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome." 07/01/2007 - "Among the syndromic manifestations the mitochondrial encephalopathy, lactacidosis, and stroke-like episode (MELAS) syndrome is the most frequent. " 01/01/1993 - "We conclude that these patients suffered from adult-onset mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS syndrome). " 11/01/1985 - "Mitochondrial encephalopathy, lactic acidosis, and strokelike syndrome (MELAS)"
4.	Carnitine (L-Carnitine)FDA LinkGeneric 09/01/1995 - "We recommend the steroid or carnitine supplement therapy be applied to the MELAS syndrome with carnitine deficiency." 09/01/1995 - "Therefore, the carnitine deficiency may occur in MELAS syndrome with the A to G point mutation at np 3243. " 09/01/1995 - "CPEO and carnitine deficiency overlapping in MELAS syndrome." 09/01/2015 - "Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy. " 09/01/2007 - "Mitochondrial disease with the MELAS syndrome was diagnosed and then he was treated with Co-enzyme Q10 and carnitine. "
5.	coenzyme Q10 (CoQ10)IBA 09/01/2015 - "Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy. "
6.	Mitochondrial DNA (mtDNA)IBA 04/22/2011 - "In this study, we report a Tunisian girl with clinical features of MELAS syndrome who was negative for the common m.3243A>G mutation, but also for the reported mitochondrial DNA (mtDNA) mutations and deletions. " 07/16/2001 - "The study of the mitochondrial DNA helps diagnosing in a non invasive way many patients with MELAS syndrome." 09/18/2000 - "We performed morphological, biochemical, and genetic studies, including single-fiber PCR (sf PCR), on muscle biopsies obtained from a mother and daughter with MELAS syndrome due to the A3243G transition of mitochondrial DNA (mtDNA). " 03/15/2014 - "The 3243A>G mutation of mtDNA usually is associated with MELAS syndrome. " 05/01/2013 - "Darwin's own symptoms are described here and are in accord with the hypothesis that he had the mtDNA mutation commonly associated with the MELAS syndrome."
7.	Leu Transfer RNAIBA 09/01/2015 - "The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). " 11/01/2012 - "Approximately 80% of cases of MELAS syndrome are associated with a m.3243A > G mutation in the MT-TL1 gene, which encodes the mitochondrial tRNALeu (UUR). " 07/16/2001 - "The diagnosis of MELAS syndrome was confirmed by the presence of the mitochondrial tRNALeu(UUR) mutation at the base pair 3243. " 07/16/2001 - "The tRNALeu(UUR) mutation at the base pair 3234 is associated to 80% of cases of MELAS syndrome. " 05/01/1994 - "MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family."
8.	Pyruvic Acid (Pyruvate)IBA 01/01/2006 - "Many of the therapeutic strategies used have been adopted as the result of isolated case reports or limited clinical studies that have included a heterogeneous population of patients with the MELAS syndrome, other defects in oxidative phosphorylation or lactic acidosis due to disorders of pyruvate metabolism. " 11/01/2012 - "Pyruvate treatment was found to alleviate clinical symptoms of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and is highly promising therapeutic. "
9.	XenonIBA 02/01/2000 - "Cerebral blood flow, vascular response and metabolism in patients with MELAS syndrome--xenon CT and PET study." 02/01/2000 - "Two patients with MELAS syndrome underwent serial measurement of cerebral blood flow (CBF) with xenon CT while they were presenting stroke like episodes accompanying cerebral lesion detectable with CT. " 07/01/2001 - "A patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episode (MELAS) syndrome underwent serial measurement of cerebral blood flow with xenon computed tomography (Xe-CBF) while presenting with strokelike episodes accompanied by a cerebral lesion. "
10.	DNA (Deoxyribonucleic Acid)IBA 12/16/2008 - "DNA was extracted from the peripheral blood, urine, hair follicle, and saliva of 25 MELAS syndrome patients carrying A3243G mutation and their mothers and other maternal relatives, 33 persons in number, and the muscle tissues from 5 patients obtained by biopsy. " 07/01/1993 - "Noninvasive diagnosis of the MELAS syndrome from blood DNA." 03/01/2009 - "We established the diagnosis of MELAS syndrome (mitochondrial encephalomy-opathy, lactic acidosis and stroke-like episodes) with the collaboration of the Laboratory of Molecular Neurogenetics of the Department of Neurology of Columbia University in New York, NY, USA to whom we sent peripheral blood DNA. " 10/01/2008 - "We also screened for the mitochondrial A3243G DNA transition associated with the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), and occasionally FSGS. " 07/01/1999 - "To report ocular findings in the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) in a family with the A to G 3243 mitochondrial (mt) DNA point mutation. "

Therapies and Procedures

1.	Artificial Respiration (Mechanical Ventilation) 11/01/1995 - "Despite the ill-defined nature of the disease and uncertain prognosis, we believe that long-term home mechanical ventilation of children with early onset MELAS syndrome is a viable option for both patients and their families and results in overall improvement in quality of life for the patient." 11/01/1995 - "There are no reports in the literature of long-term home mechanical ventilation of a child with mitochondrial encephalomyopathy (MELAS) syndrome despite the many descriptions of possible etiologies of the concomitant respiratory failure. "
2.	Cochlear Implantation 04/01/2005 - "Cochlear implantation in patients with MELAS syndrome." 01/01/2003 - "Cochlear implantation can be recommended for patients with MELAS syndrome if they have residual retrocochlear function. " 07/01/2002 - "Cochlear implantation in a profoundly deaf patient with MELAS syndrome." 08/01/2001 - "Cochlear implantation in a profoundly deaf patient with MELAS syndrome." 03/01/1999 - "Successful cochlear implantation in a patient with MELAS syndrome."
3.	Cochlear Implants (Cochlear Implant) 01/01/2003 - "The aim of this study was to investigate the usefulness of a Nucleus C124M cochlear implant in a patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. "
4.	Fundoplication 12/01/2005 - "We present a patient with MELAS syndrome who underwent Nissen fundoplication and gastrojejunostomy. " 06/01/2003 - "We report the case of a 17-year-old boy with mitochondrial encephalomyopathy-lactic acidosis-stroke-like episodes (MELAS) syndrome who underwent a laparotomy for fundoplication. "
5.	General Anesthesia 06/01/2000 - "To avoid these appalling troubles in general anesthesia, we chose spinal anesthesia for a patient with MELAS syndrome receiving appendectomy. " 04/01/2010 - "General anesthesia has several potential hazards to patients with MELAS syndrome, such as malignant hyperthermia, hypothermia, and metabolic acidosis. "