MCID: LCT008
MIFTS: 17

Lactate Dehydrogenase Deficiency malady

Categories: Rare diseases

Aliases & Classifications for Lactate Dehydrogenase Deficiency

Aliases & Descriptions for Lactate Dehydrogenase Deficiency:

Name: Lactate Dehydrogenase Deficiency 50 25 69
Lactate Dehydrogenase Subunit Deficiencies 25
Deficiency of Lactate Dehydrogenase 25
Ldh Deficiency 25

Classifications:



Summaries for Lactate Dehydrogenase Deficiency

NIH Rare Diseases : 50 lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. there are two types of lactate dehydrogenase deficiency: lactate dehydrogenase a deficiency (sometimes called glycogen storage disease xi) and lactate dehydrogenase b deficiency. people with lactate dehydrogenase a deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). people with lactate dehydrogenase b deficiency typically do not have symptoms. lactate dehydrogenase a deficiency is caused by mutations in the ldha gene. lactate dehydrogenase b deficiency is caused by mutations in the ldhb gene. both types are inherited in an autosomal recessive pattern. last updated: 12/27/2012

MalaCards based summary : Lactate Dehydrogenase Deficiency, also known as lactate dehydrogenase subunit deficiencies, is related to glycogen storage disease due to lactate dehydrogenase deficiency and lactate dehydrogenase deficiency type c. The drugs Nevirapine and Lamivudine have been mentioned in the context of this disorder.

Genetics Home Reference : 25 Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.

Wikipedia : 71 Lactate dehydrogenase (LDH or LD) is an enzyme found in nearly all living cells (animals, plants, and... more...

Related Diseases for Lactate Dehydrogenase Deficiency

Diseases related to Lactate Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 glycogen storage disease due to lactate dehydrogenase deficiency 12.1
2 lactate dehydrogenase deficiency type c 12.0
3 fanconi-bickel syndrome 11.2
4 lactate dehydrogenase b deficiency 11.2
5 pneumonia 9.7

Graphical network of the top 20 diseases related to Lactate Dehydrogenase Deficiency:



Diseases related to Lactate Dehydrogenase Deficiency

Symptoms & Phenotypes for Lactate Dehydrogenase Deficiency

Drugs & Therapeutics for Lactate Dehydrogenase Deficiency

Drugs for Lactate Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nevirapine Approved Phase 4 129618-40-2 4463
2
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
3
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
4 Cytochrome P-450 CYP3A Inducers Phase 4
5 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3
6 Anti-HIV Agents Phase 4,Phase 3
7 Anti-Infective Agents Phase 4,Phase 3,Phase 2
8 Anti-Retroviral Agents Phase 4,Phase 3
9 Reverse Transcriptase Inhibitors Phase 4,Phase 3
10 Antiviral Agents Phase 4,Phase 3
11
Ritonavir Approved, Investigational Phase 3 155213-67-5 392622
12
Lopinavir Approved Phase 3 192725-17-0 92727
13
Tenofovir Approved, Investigational Phase 3 147127-20-6 464205
14
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
15
Primaquine Approved Phase 2, Phase 3 90-34-6 4908
16
Pyruvate Approved, Nutraceutical Phase 3
17
protease inhibitors Phase 3
18 HIV Integrase Inhibitors Phase 3
19 HIV Protease Inhibitors Phase 3
20 Cytochrome P-450 CYP3A Inhibitors Phase 3
21 Cytochrome P-450 Enzyme Inhibitors Phase 3
22 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 3
23 Integrase Inhibitors Phase 3
24 Raltegravir Potassium Phase 3
25
Dihydroartemisinin Phase 2, Phase 3 71939-50-9 6918483
26
Piperaquine Phase 2, Phase 3 4085-31-8 5079497
27 Antimalarials Phase 2, Phase 3
28 Artemisinine Phase 2, Phase 3
29 Artemisinins Phase 2, Phase 3
30 Antiparasitic Agents Phase 2, Phase 3
31 Antiprotozoal Agents Phase 2, Phase 3
32 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genotype Based Personalized Prescription of Nevirapine Completed NCT00986063 Phase 4
2 Study Comparing Lopinavir/Ritonavir (LPV/r) + Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) With a Nucleoside Sparing Regimen Consisting of Lopinavir/Ritonavir + Raltegravir (RAL) Completed NCT00711009 Phase 3
3 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Not yet recruiting NCT02616484 Phase 3
4 Evaluation of the Safety of Primaquine in Combination With Dihydroartemisinin-piperaquine in G6PD Deficient Males in The Gambia Terminated NCT02654730 Phase 2, Phase 3
5 Evaluation of Lactate Dehydrogenase as Decision Support for Admissions to Neonatal Ward Completed NCT02379936
6 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

Search NIH Clinical Center for Lactate Dehydrogenase Deficiency

Genetic Tests for Lactate Dehydrogenase Deficiency

Anatomical Context for Lactate Dehydrogenase Deficiency

Publications for Lactate Dehydrogenase Deficiency

Articles related to Lactate Dehydrogenase Deficiency:

id Title Authors Year
1
Simultaneous production of 3-hydroxypropionic acid and 1,3-propanediol from glycerol using resting cells of the lactate dehydrogenase-deficient recombinant Klebsiella pneumoniae overexpressing an aldehyde dehydrogenase. ( 23228456 )
2013
2
Genetic and physiological analysis of the lethal effect of L-(+)-lactate dehydrogenase deficiency in Streptococcus mutans: complementation by alcohol dehydrogenase from Zymomonas mobilis. ( 8926105 )
1996
3
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients. ( 7944300 )
1994
4
Evidence that L-(+)-lactate dehydrogenase deficiency is lethal in Streptococcus mutans. ( 8262650 )
1994
5
Population screening of lactate dehydrogenase deficiencies in Fukuoka Prefecture in Japan and molecular characterization of three independent mutations in the lactate dehydrogenase-B(H) gene. ( 8270259 )
1994
6
L-(+)-lactate dehydrogenase deficiency is lethal in Streptococcus mutans. ( 8113201 )
1994
7
Serotype c Streptococcus mutans mutatable to lactate dehydrogenase deficiency. ( 3912415 )
1985

Variations for Lactate Dehydrogenase Deficiency

Expression for Lactate Dehydrogenase Deficiency

Search GEO for disease gene expression data for Lactate Dehydrogenase Deficiency.

Pathways for Lactate Dehydrogenase Deficiency

GO Terms for Lactate Dehydrogenase Deficiency

Sources for Lactate Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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