MCID: MTB016
MIFTS: 32

Metabolic Myopathy

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Metabolic Myopathy

MalaCards integrated aliases for Metabolic Myopathy:

Name: Metabolic Myopathy 58 29

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 32 G73.6
UMLS via Orphanet 72 C0270984
Orphanet 58 ORPHA98486

Summaries for Metabolic Myopathy

MalaCards based summary : Metabolic Myopathy is related to multiple acyl-coa dehydrogenase deficiency and carnitine palmitoyltransferase ii deficiency, infantile. 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 Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and heart.

Wikipedia : 74 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 multiple acyl-coa dehydrogenase deficiency 29.8 SLC25A20 AMPD1
2 carnitine palmitoyltransferase ii deficiency, infantile 29.6 SLC25A20 AMPD1
3 glycogen storage disease v 29.5 PGAM2 MB AMPD1
4 myoglobinuria 29.5 PGAM2 MB AMPD1
5 glycogen storage disease vii 29.4 PGAM2 ENO3 AMPD1
6 malignant hyperthermia 29.0 MB AMPD1
7 myopathy 28.8 SLC25A20 PGAM2 MB ENO3 AMPD1 ALDOA
8 glycogen storage disease 28.4 PGAM2 MB ENO3 BTD ALDOA
9 mitochondrial myopathy with lactic acidosis 12.0
10 glycogen storage disease x 11.4
11 myopathy, lactic acidosis, and sideroblastic anemia 1 11.4
12 erythrocyte lactate transporter defect 11.2
13 thyroid hormone metabolism, abnormal 11.1
14 camptocormism 11.1
15 mitochondrial myopathy 10.4
16 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.3
17 glycogen storage disease ii 10.2
18 mitochondrial disorders 10.1
19 hypotonia 10.1
20 respiratory failure 10.0
21 inherited metabolic disorder 10.0
22 myopathy due to myoadenylate deaminase deficiency 10.0
23 neuromuscular disease 10.0
24 acyl-coa dehydrogenase deficiency 10.0
25 atrial standstill 1 9.9
26 mitochondrial complex iv deficiency 9.9
27 mitochondrial metabolism disease 9.9
28 muscular atrophy 9.9
29 muscular dystrophy 9.9
30 periodic paralysis 9.9
31 glycogen storage disease iv 9.8
32 muscular dystrophy, duchenne type 9.8
33 kearns-sayre syndrome 9.8
34 stroke, ischemic 9.8
35 branchiootic syndrome 1 9.8
36 glycogen storage disease xiii 9.8
37 atrioventricular block 9.8
38 limb ischemia 9.8
39 left ventricular noncompaction 9.8
40 hypertrophic cardiomyopathy 9.8
41 epilepsy 9.8
42 hyperuricemia 9.8
43 nemaline myopathy 9.8
44 hypoglycemia 9.8
45 thyrotoxic periodic paralysis 9.8
46 infantile hypotonia 9.8
47 muscular glycogenosis 9.8
48 muscular lipidosis 9.8
49 combined oxidative phosphorylation deficiency 8 9.8 SLC25A20 BTD
50 acyl-coa dehydrogenase, medium-chain, deficiency of 9.8 SLC25A20 BTD

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



Diseases related to Metabolic Myopathy

Symptoms & Phenotypes for Metabolic Myopathy

Drugs & Therapeutics for Metabolic Myopathy

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
2 Psychotropic Drugs Phase 2
3 Neurotransmitter Agents Phase 2
4 Anticonvulsants Phase 2
5 Hormones
6 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 Active, not 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:

40
Skeletal Muscle, Bone, Heart, Testes, Kidney, Lung

Publications for Metabolic Myopathy

Articles related to Metabolic Myopathy:

(show top 50) (show all 355)
# Title Authors PMID Year
1
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies. 61
32483371 2020
2
Impaired lipolysis in propionic acidemia: A new metabolic myopathy? 61
32395405 2020
3
Variants in HNRNPDL and SETX Not Necessarily Indicate Familial Amyotrophic Lateral Sclerosis or Limb Girdle Muscular Dystrophy 1G in Acute Muscular Respiratory Failure. 61
32367994 2020
4
Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families. 61
32049654 2020
5
Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease. 61
30415384 2020
6
MEHP interferes with mitochondrial functions and homeostasis in skeletal muscle cells. 61
32255176 2020
7
Update Review about Metabolic Myopathies. 61
32316520 2020
8
Diagnosis and Care of Infants and Children with Pompe Disease. 61
32069498 2020
9
Mitochondrial Structure and Function in the Metabolic Myopathy Accompanying Patients with Critical Limb Ischemia. 61
32121096 2020
10
Neutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report. 61
32269696 2020
11
Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature. 61
32549891 2020
12
Fever, Fasting, and Rhabdomyolysis in an Adult Male. 61
32129275 2020
13
Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components. 61
31861911 2019
14
[Follow-up study in German Hunting Terrier dogs with exercise induced metabolic myopathy]. 61
31814088 2019
15
McArdle Disease: New Insights into Its Underlying Molecular Mechanisms. 61
31775340 2019
16
The need for biochemical testing in beta-enolase deficiency in the genomic era. 61
31741825 2019
17
Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. 61
30900170 2019
18
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa. 61
30778879 2019
19
Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease. 61
31392192 2019
20
Total thyroidectomys in patient with McArdle's syndrome: Anesthetic management. 61
30509783 2019
21
Loss of RNA-Binding Protein Sfpq Causes Long-Gene Transcriptopathy in Skeletal Muscle and Severe Muscle Mass Reduction with Metabolic Myopathy. 61
30870781 2019
22
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency. 61
30570712 2019
23
Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease. 61
30404653 2018
24
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy. 61
29556838 2018
25
Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase. 61
30049495 2018
26
Follow-up analysis of voice quality in patients with late-onset Pompe disease. 61
30367637 2018
27
A new AMPK activator, GSK773, corrects fatty acid oxidation and differentiation defect in CPT2-deficient myotubes. 61
30007356 2018
28
FDG PET/CT of Metabolic Myopathy With Posttreatment Follow-up. 61
30004941 2018
29
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. 61
30257713 2018
30
Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports. 61
30149802 2018
31
Enzymatic replacement therapy in patients with late-onset Pompe disease - 6-Year follow up. 61
29803406 2018
32
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease. 61
29880332 2018
33
Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients. 61
29788986 2018
34
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China. 61
29539587 2018
35
A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy. 61
29491033 2018
36
Oxidative stress and antioxidant treatment in patients with peripheral artery disease. 61
29611350 2018
37
Metabolic myopathies: a practical approach. 61
29223996 2018
38
Wave of renal impairment. 61
29391358 2018
39
Mutations in GMPPB Presenting with Pseudometabolic Myopathy. 61
28456886 2018
40
Resistance Exercise Training in McArdle Disease: Myth or Reality? 61
30363996 2018
41
Screening for late-onset Pompe disease in western Denmark. 61
28832912 2018
42
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. 61
29122469 2017
43
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease. 61
29118420 2017
44
[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm]. 61
29153022 2017
45
Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? 61
28763149 2017
46
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy. 61
29048924 2017
47
Skeletal muscle metabolism during prolonged exercise in Pompe disease. 61
28490439 2017
48
Bortezomib-Induced Muscle Toxicity in Multiple Myeloma. 61
28863457 2017
49
Muscle fiber type proportion and size is not altered in mcardle disease. 61
27859426 2017
50
GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells. 61
28624186 2017

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
12.82 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 11.36 ENO3 ALDOA
6
Show member pathways
11.27 PGAM2 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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