MCID: MTB016
MIFTS: 34

Metabolic Myopathy

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Metabolic Myopathy

MalaCards integrated aliases for Metabolic Myopathy:

Name: Metabolic Myopathy 59 29

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 33 G73.6
UMLS via Orphanet 73 C0270984
Orphanet 59 ORPHA98486

Summaries for Metabolic Myopathy

MalaCards based summary : Metabolic Myopathy is related to myoglobinuria and glycogen storage disease v. An important gene associated with Metabolic Myopathy is AMPD1 (Adenosine Monophosphate Deaminase 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Valproic acid and Tranquilizing Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related phenotype is muscle.

Wikipedia : 75 Metabolic myopathies are myopathies that result from defects in biochemical metabolism that primarily... more...

Related Diseases for Metabolic Myopathy

Diseases related to Metabolic Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 myoglobinuria 29.8 PGAM2 MB
2 glycogen storage disease v 29.6 MB AMPD1
3 glycogen storage disease 29.0 PGAM2 ENO3 BTD ALDOA
4 mitochondrial myopathy with lactic acidosis 12.0
5 phosphoglycerate mutase deficiency 11.4
6 myopathy, lactic acidosis, and sideroblastic anemia 1 11.4
7 erythrocyte lactate transporter defect 11.2
8 thyroid hormone metabolism, abnormal 11.1
9 camptocormism 11.1
10 myopathy 10.8
11 mitochondrial myopathy 10.4
12 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.3
13 glycogen storage disease ii 10.2
14 mitochondrial disorders 10.1
15 hypotonia 10.1
16 multiple acyl-coa dehydrogenase deficiency 10.0
17 respiratory failure 10.0
18 inherited metabolic disorder 10.0
19 glycogen storage disease vii 10.0
20 neuromuscular disease 10.0
21 acyl-coa dehydrogenase deficiency 10.0
22 atrial standstill 1 9.9
23 mitochondrial complex iv deficiency 9.9
24 muscular atrophy 9.9
25 malignant hyperthermia 9.9
26 muscular dystrophy 9.9
27 periodic paralysis 9.9
28 glycogen storage disease iv 9.8
29 glycogen storage disease x 9.8
30 muscular dystrophy, duchenne type 9.8
31 kearns-sayre syndrome 9.8
32 carnitine palmitoyltransferase ii deficiency, infantile 9.8
33 stroke, ischemic 9.8
34 branchiootic syndrome 1 9.8
35 glycogen storage disease xiii 9.8
36 atrioventricular block 9.8
37 left ventricular noncompaction 9.8
38 heart disease 9.8
39 hyperuricemia 9.8
40 nemaline myopathy 9.8
41 congestive heart failure 9.8
42 cerebrovascular disease 9.8
43 mitochondrial metabolism disease 9.8
44 hypoglycemia 9.8
45 hypertrophic cardiomyopathy 9.8
46 thyrotoxic periodic paralysis 9.8
47 infantile hypotonia 9.8
48 muscular glycogenosis 9.8
49 muscular lipidosis 9.8
50 fish allergy 9.8 ENO3 ALDOA

Graphical network of the top 20 diseases related to Metabolic Myopathy:



Diseases related to Metabolic Myopathy

Symptoms & Phenotypes for Metabolic Myopathy

MGI Mouse Phenotypes related to Metabolic Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 AMPD1 BTD MB NCOA3

Drugs & Therapeutics for Metabolic Myopathy

Drugs for Metabolic Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
2 Tranquilizing Agents Phase 2
3 GABA Agents Phase 2
4 Antimanic Agents Phase 2
5 Neurotransmitter Agents Phase 2
6 Central Nervous System Depressants Phase 2
7 Anticonvulsants Phase 2
8 Psychotropic Drugs Phase 2
9 Hormones
10 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01517880 Phase 2 Sialic Acid Extended Release (SA-ER);Placebo
2 A Phase II Pilot Study to Explore Treatment With Sodium Valproate in Adults With McArdle Disease (Glycogen Storage Disorder Type V, GSDV) Completed NCT03112889 Phase 2 Sodium Valproate
3 A Phase 1 Study to Evaluate the Safety and Pharmacokinetics of Single and Repeat Doses of Sialic Acid Extended Release (SA-ER) Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01359319 Phase 1 Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tables;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets
4 Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies Unknown status NCT02448667
5 GDF-15 as a Biomarker for Mitochondrial Disease Completed NCT02745938
6 Characterization of Skeletal Muscle Using Magnetic Resonance Elastography (MRE) Completed NCT00588432
7 A Multicenter, Multinational Study That Will Evaluate Clinical and Surrogate Parameters Known to be Affected in Alpha-Mannosidosis Patients Completed NCT00498420
8 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

Search NIH Clinical Center for Metabolic Myopathy

Genetic Tests for Metabolic Myopathy

Genetic tests related to Metabolic Myopathy:

# Genetic test Affiliating Genes
1 Metabolic Myopathy 29

Anatomical Context for Metabolic Myopathy

MalaCards organs/tissues related to Metabolic Myopathy:

41
Skeletal Muscle, Heart, Testes, Kidney, Lung, Bone

Publications for Metabolic Myopathy

Articles related to Metabolic Myopathy:

(show top 50) (show all 340)
# Title Authors PMID Year
1
Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. 38
30900170 2019
2
Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease. 38
31392192 2019
3
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa. 38
30778879 2019
4
Total thyroidectomys in patient with McArdle's syndrome: Anesthetic management. 38
30509783 2019
5
Loss of RNA-Binding Protein Sfpq Causes Long-Gene Transcriptopathy in Skeletal Muscle and Severe Muscle Mass Reduction with Metabolic Myopathy. 38
30870781 2019
6
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency. 38
30570712 2019
7
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy. 38
29556838 2018
8
Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease. 38
30404653 2018
9
Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease. 38
30415384 2018
10
A new AMPK activator, GSK773, corrects fatty acid oxidation and differentiation defect in CPT2-deficient myotubes. 38
30007356 2018
11
Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase. 38
30049495 2018
12
Follow-up analysis of voice quality in patients with late-onset Pompe disease. 38
30367637 2018
13
FDG PET/CT of Metabolic Myopathy With Posttreatment Follow-up. 38
30004941 2018
14
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. 38
30257713 2018
15
Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports. 38
30149802 2018
16
Enzymatic replacement therapy in patients with late-onset Pompe disease - 6-Year follow up. 38
29803406 2018
17
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease. 38
29880332 2018
18
Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients. 38
29788986 2018
19
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China. 38
29539587 2018
20
A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy. 38
29491033 2018
21
Oxidative stress and antioxidant treatment in patients with peripheral artery disease. 38
29611350 2018
22
Wave of renal impairment. 38
29391358 2018
23
Metabolic myopathies: a practical approach. 38
29223996 2018
24
Mutations in GMPPB Presenting with Pseudometabolic Myopathy. 38
28456886 2018
25
Resistance Exercise Training in McArdle Disease: Myth or Reality? 38
30363996 2018
26
Screening for late-onset Pompe disease in western Denmark. 38
28832912 2018
27
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. 38
29122469 2017
28
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease. 38
29118420 2017
29
[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm]. 38
29153022 2017
30
Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? 38
28763149 2017
31
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy. 38
29048924 2017
32
Skeletal muscle metabolism during prolonged exercise in Pompe disease. 38
28490439 2017
33
Bortezomib-Induced Muscle Toxicity in Multiple Myeloma. 38
28863457 2017
34
Muscle fiber type proportion and size is not altered in mcardle disease. 38
27859426 2017
35
GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells. 38
28624186 2017
36
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders. 38
27600705 2017
37
Histopathologic and Biochemical Evidence for Mitochondrial Disease Among 279 Patients with Severe Statin Myopathy. 38
28269789 2017
38
Clinical Analysis of Algerian Patients with Pompe Disease. 38
28265479 2017
39
Mitochondrial Bioenergetics in the Metabolic Myopathy Accompanying Peripheral Artery Disease. 38
28348531 2017
40
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M. 38
27612597 2016
41
Clinical, histopathological and metabolic responses following exercise in Arabian horses with a history of exertional rhabdomyolysis. 38
27687952 2016
42
Adult-onset Pompe's disease presenting with insidious hypercapnic respiratory failure. 38
28127431 2016
43
Metabolic myopathy facilitating the development of Takotsubo syndrome. 38
27077546 2016
44
Anesthetic management of 877 pediatric patients undergoing muscle biopsy for neuromuscular disorders: a 20-year review. 38
27111691 2016
45
Analysis of voice quality in patients with late-onset Pompe disease. 38
27417441 2016
46
Causes of creatine kinase levels greater than 1000 IU/L in patients referred to rheumatology. 38
27041384 2016
47
Reverse fiber type disproportion: A distinct metabolic myopathy. 38
26600317 2016
48
Oncocytoma and noncompaction in metabolic myopathy. 38
26826868 2016
49
Primary hyperparathyroidism: A changing scenario in India. 38
26904473 2016
50
Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI. 38
27391236 2016

Variations for Metabolic Myopathy

Expression for Metabolic Myopathy

Search GEO for disease gene expression data for Metabolic Myopathy.

Pathways for Metabolic Myopathy

Pathways related to Metabolic Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 SLC25A20 PGAM2 NCOA3 ENO3 BTD AMPD1
2
Show member pathways
12.29 PGAM2 ENO3 ALDOA
3
Show member pathways
11.91 PGAM2 ENO3 ALDOA
4
Show member pathways
11.46 PGAM2 ENO3 ALDOA
5
Show member pathways
11.33 PGAM2 ALDOA
6 11.29 ENO3 ALDOA

GO Terms for Metabolic Myopathy

Cellular components related to Metabolic Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.5 SLC25A20 PGAM2 NCOA3 MB ENO3 AMPD1
2 extracellular exosome GO:0070062 9.1 PGAM2 NCOA3 MB ENO3 BTD ALDOA

Biological processes related to Metabolic Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 9.33 PGAM2 ENO3 ALDOA
2 striated muscle contraction GO:0006941 9.26 PGAM2 ALDOA
3 glycolytic process GO:0006096 9.13 PGAM2 ENO3 ALDOA
4 canonical glycolysis GO:0061621 8.8 PGAM2 ENO3 ALDOA

Sources for Metabolic Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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