MCID: MTC023
MIFTS: 38

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

MalaCards integrated aliases for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:

Name: Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 54 39
Melas Syndrome 54 26
Melas 54 26
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 26
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes 26
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke 26
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode 26

Classifications:



Summaries for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

NIH Rare Diseases : 54 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. People with MELAS can also have a buildup of lactic acid in their bodies that can lead to vomiting, abdominal pain, fatigue, muscle weakness, and difficulty breathing. The genes associated with MELAS are located in mitochondrial DNA and therefore follow a maternal inheritance pattern (also called mitochondrial inheritance). MELAS can be inherited from the mother only, because only females pass mitochondrial DNA to their children. In some cases, MELAS results from a new mutation that was not inherited from a person's mother.

MalaCards based summary : Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes, also known as melas syndrome, is related to growth hormone deficiency and pituitary gland disease. An important gene associated with Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes is GH1 (Growth Hormone 1), and among its related pathways/superpathways are NF-KappaB Family Pathway and G-protein signaling RAC1 in cellular process. The drugs Melatonin and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include brain, thyroid and kidney.

Genetics Home Reference : 26 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).

Related Diseases for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Diseases related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 growth hormone deficiency 30.3 GH1 GHRH
2 pituitary gland disease 30.1 GH1 GHRH
3 anorexia nervosa 28.9 GH1 GHRH
4 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 12.2
5 myopathy 11.3
6 mitochondrial myopathy 11.3
7 encephalopathy 11.3
8 lactic acidosis 11.2
9 mitochondrial encephalomyopathy 11.2
10 leigh syndrome, french canadian type 11.1
11 mitochondrial complex i deficiency, nuclear type 1 11.1
12 mohr-tranebjaerg syndrome 11.1
13 muscle disorders 11.1
14 macular degeneration, age-related, 2 10.6
15 mitochondrial complex iv deficiency 10.6
16 3-methylglutaconic aciduria, type i 10.6
17 cyclic vomiting syndrome 10.6
18 diabetes and deafness, maternally inherited 10.6
19 status epilepticus 10.5
20 diabetes mellitus 10.5
21 creutzfeldt-jakob disease 10.4
22 abetalipoproteinemia 10.4
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
24 meningoencephalitis 10.4
25 dementia 10.4
26 hypothyroidism 10.4
27 intestinal pseudo-obstruction 10.4
28 depression 10.4
29 myoclonus 10.4
30 retinal detachment 10.4
31 stroke, ischemic 10.4
32 meconium ileus 10.4
33 epilepsy 10.4
34 superior mesenteric artery syndrome 10.4
35 intestinal obstruction 10.4
36 intestinal volvulus 10.4
37 herpes simplex 10.4
38 encephalitis 10.4
39 bowenoid papulosis 10.4
40 herpes simplex encephalitis 10.4
41 leigh syndrome 10.3
42 myoclonic epilepsy associated with ragged-red fibers 10.1
43 kearns-sayre syndrome 10.1
44 sensorineural hearing loss 10.0
45 leber optic atrophy and dystonia 9.9
46 auditory agnosia 9.9
47 pre-eclampsia 9.9
48 eclampsia 9.9
49 agnosia 9.9
50 kidney disease 9.9

Graphical network of the top 20 diseases related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:



Diseases related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes

Symptoms & Phenotypes for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Drugs & Therapeutics for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Drugs for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 73-31-4 896
2 Vaccines Phase 4
3 Immunologic Factors Phase 4
4 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
5 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
6 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Not Applicable 59-30-3 6037
8 Nutrients Phase 2, Phase 3,Not Applicable
9 Vitamin B9 Phase 2, Phase 3,Not Applicable
10 Folate Phase 2, Phase 3,Not Applicable
11 Trace Elements Phase 2, Phase 3,Not Applicable
12 Vitamins Phase 2, Phase 3,Not Applicable
13 Vitamin B Complex Phase 2, Phase 3,Not Applicable
14 Micronutrients Phase 2, Phase 3,Not Applicable
15
Idebenone Approved, Investigational Phase 2 58186-27-9
16 arginine Phase 2,Early Phase 1
17 Ubiquinone Phase 2
18
Clopidogrel Approved Phase 1 120202-66-6, 113665-84-2 60606
19
Dopamine Approved Phase 1 62-31-7, 51-61-6 681
20
Ramipril Approved Phase 1 87333-19-5 5362129
21
Alprazolam Approved, Illicit, Investigational Phase 1 28981-97-7 2118
22
Donepezil Approved Phase 1 120014-06-4 3152
23
Oxazepam Approved Phase 1 604-75-1 4616
24
Memantine Approved, Investigational Phase 1 19982-08-2 4054
25
Zopiclone Approved Phase 1 43200-80-2 5735
26
Acetaminophen Approved Phase 1 103-90-2 1983
27
Furosemide Approved, Vet_approved Phase 1 54-31-9 3440
28
Pembrolizumab Approved Phase 1 1374853-91-4
29
Nitric Oxide Approved Phase 1,Early Phase 1 10102-43-9 145068
30 Neurotransmitter Agents Phase 1,Not Applicable,Early Phase 1
31 Antihypertensive Agents Phase 1,Not Applicable
32 Vasodilator Agents Phase 1,Not Applicable,Early Phase 1
33 Angiotensin-Converting Enzyme Inhibitors Phase 1
34 Excitatory Amino Acids Phase 1
35 Peripheral Nervous System Agents Phase 1,Early Phase 1
36 Antipyretics Phase 1
37 Pharmaceutical Solutions Phase 1
38 Nootropic Agents Phase 1
39 Excitatory Amino Acid Antagonists Phase 1
40 Purinergic P2Y Receptor Antagonists Phase 1
41 GABA Agents Phase 1
42 HIV Protease Inhibitors Phase 1
43 Cholinesterase Inhibitors Phase 1
44 GABA Modulators Phase 1
45 Hypnotics and Sedatives Phase 1
46 Natriuretic Agents Phase 1
47 diuretics Phase 1
48 Analgesics Phase 1
49
protease inhibitors Phase 1
50 Antiparkinson Agents Phase 1

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
2 Oral Melatonin in Critically Ill High-risk Patients Completed NCT00470821 Phase 4 Oral melatonin 3mg BID;Placebo
3 Myo-inositol and Melatonin in Pre-menopausal Women Completed NCT01115127 Phase 2, Phase 3
4 Evaluation of Pigmented Skin Lesions With MelaFind(R) System Completed NCT00434057 Phase 3
5 Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome Unknown status NCT00068913 Phase 2 Dichloroacetate
6 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2 L-Arginine
7 Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
8 Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers Completed NCT03056209 Phase 1 KL1333 25 mg;KL1333 50 mg;KL1333 100 mg;KL1333 200 mg;KL1333 400 mg;KL1333 600 mg;KL1333 800 mg;Placebo
9 MELA Study - Hedonic Study on the Taste of Drugs Crushed in Food: Observational Study Involving 16 Healthy Volunteers Completed NCT02570581 Phase 1
10 X4P-001 and Pembrolizumab in Patients With Advanced Melanoma Completed NCT02823405 Phase 1 X4P-001;Pembrolizumab
11 A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease Recruiting NCT03888716 Phase 1 KL1333;Placebo Oral Tablet
12 L-Citrulline Dose Finding Safety Study in MELAS Not yet recruiting NCT03952234 Phase 1 L-Citrulline
13 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
14 Propranolol Treatment of Traumatic Memories (PTTM) Unknown status NCT01069159 Not Applicable Propranolol Hydrochloride;Placebo
15 Nitric Oxide Production in MELAS Syndrome Completed NCT01339494 Early Phase 1
16 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
17 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
18 Does the Aid of MelaFind Affect Clinical Management Decisions Completed NCT01387581
19 MelaFind Evaluations for Patients With Multiple Nevi Completed NCT01700101
20 Survey Study - Sensitivity Comparison Between MelaFind and Physician Group Completed NCT01011153
21 Mitochondrial and Microbiota Relationship Recruiting NCT03213067
22 Nicotinamide Riboside and Mitochondrial Biogenesis Recruiting NCT03432871 Not Applicable
23 Post-Approval Study of MelaFind Terminated NCT01700114
24 Impact of Obstructive SAS on Metastatic Potential of Cutaneous Melanoma Withdrawn NCT02699918 Early Phase 1

Search NIH Clinical Center for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes

Genetic Tests for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Anatomical Context for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

MalaCards organs/tissues related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:

42
Brain, Thyroid, Kidney, Pituitary, Skin, Heart, Skeletal Muscle

Publications for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Articles related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:

(show top 50) (show all 202)
# Title Authors Year
1
Cardiomyopathy associated with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. ( 30535308 )
2019
2
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature. ( 30766507 )
2019
3
The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. ( 30554496 )
2019
4
Levetiracetam administration is correlated with lower mortality in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: a retrospective study. ( 30681492 )
2019
5
Perampanel: A therapeutic alternative in refractory status epilepticus associated with MELAS syndrome. ( 30834194 )
2019
6
Cognitive impairment, clinical severity and MRI changes in MELAS syndrome. ( 29289801 )
2019
7
Clinical profile and outcome of cardiac involvement in MELAS syndrome. ( 30482630 )
2019
8
Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome. ( 30701423 )
2019
9
MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene. ( 30739820 )
2019
10
Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge. ( 30836591 )
2019
11
New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2. ( 30949164 )
2019
12
Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report. ( 31068171 )
2019
13
Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation. ( 30140253 )
2018
14
Transient bilateral optic disc oedema in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). ( 30340746 )
2018
15
Fixation-off sensitivity in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. ( 30500480 )
2018
16
Conventional and Diffusional Magnetic Resonance Imaging Features of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes in Chinese Patients: A Study of 40 Cases. ( 29369945 )
2018
17
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with severe systemic symptoms: Pathology and biochemistry. ( 29480536 )
2018
18
The utility of arginine-citrulline stable isotope tracer infusion technique in the assessment of nitric oxide production in MELAS syndrome. ( 28843720 )
2018
19
The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome. ( 29454073 )
2018
20
Global cerebral involvement and L-arginine use in a patient with MELAS syndrome. ( 29907473 )
2018
21
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome. ( 30210801 )
2018
22
No MELAS syndrome without heteroplasmy levels or multisystem examination. ( 30424884 )
2018
23
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders. ( 29260009 )
2017
24
Anesthetic Management of Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome) in a High-Risk Pregnancy: A Case Report. ( 28398928 )
2017
25
Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome. ( 27869334 )
2017
26
Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). ( 28242802 )
2017
27
Assessment of Nitric Oxide Production in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome with the Use of a Stable Isotope Tracer Infusion Technique. ( 28515163 )
2017
28
Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome. ( 29026367 )
2017
29
Retinal detachment and microangiopathy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome. ( 29217043 )
2017
30
MELAS syndrome presenting with seizure and deafness in a Malawian boy. ( 27663492 )
2017
31
The l-arginine/NO pathway in the MELAS syndrome: An insufficiently explored and controversial research area. ( 27863941 )
2017
32
Letter to the Editor: "Unaltered L-arginine/NO pathway in a MELAS patient: Is mitochondrial NO synthase involved in the MELAS syndrome?" ( 27986282 )
2017
33
Prognostication in MELAS syndrome and other m.3243A-G mutation-associated disorders. ( 28000982 )
2017
34
Analytical challenges in the assessment of NO synthesis from L-arginine in the MELAS syndrome. ( 28041706 )
2017
35
Kidney involvement in MELAS syndrome: Description of 2 cases. ( 28283275 )
2017
36
Cortical venous disease severity in MELAS syndrome correlates with brain lesion development. ( 28667360 )
2017
37
Involvement of the cerebral veins in MELAS syndrome? ( 28721442 )
2017
38
Arginine and citrulline for the treatment of MELAS syndrome. ( 28736735 )
2017
39
Response regarding involvement of the cerebral veins in MELAS syndrome. ( 28801831 )
2017
40
Black Toenail Sign in MELAS Syndrome. ( 28818358 )
2017
41
MELAS syndrome associated with a new mitochondrial tRNA-Val gene mutation (m.1616A>G). ( 28893805 )
2017
42
Pathology of mitochondria in MELAS syndrome: an ultrastructural study. ( 29025253 )
2017
43
Acute cortical deafness in a child with MELAS syndrome. ( 27056553 )
2016
44
Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency. ( 27993886 )
2016
45
MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report. ( 27683045 )
2016
46
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). ( 27671241 )
2016
47
Migratory stroke-like lesions in a case of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and a review of imaging findings. ( 27920873 )
2016
48
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. ( 26797286 )
2016
49
Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence. ( 26935953 )
2016
50
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. ( 27359089 )
2016

Variations for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Expression for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Search GEO for disease gene expression data for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes.

Pathways for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Pathways related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.88 GH1 GHRH
2
Show member pathways
11.62 GH1 GHRH
3
Show member pathways
11.17 GH1 GHRH
4
Show member pathways
11.17 GH1 GHRH
5 10.31 GH1 GHRH

GO Terms for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Biological processes related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.16 GH1 GHRH
2 positive regulation of multicellular organism growth GO:0040018 8.96 GH1 GHRH
3 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.62 GH1 GHRH

Molecular functions related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.32 GH1

Sources for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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