MCID: LCT008
MIFTS: 16

Lactate Dehydrogenase Deficiency

Categories: Rare diseases

Aliases & Classifications for Lactate Dehydrogenase Deficiency

MalaCards integrated aliases 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 Lamivudine and Nevirapine 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 : 72 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 lactate dehydrogenase b deficiency 11.0
4 lactate dehydrogenase a deficiency 11.0
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 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
2
Nevirapine Approved Phase 4 129618-40-2 4463
3
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
4 Anti-HIV Agents Phase 4
5 Anti-Infective Agents Phase 4,Phase 2,Phase 3
6 Anti-Retroviral Agents Phase 4
7 Antiviral Agents Phase 4
8 Cytochrome P-450 CYP3A Inducers Phase 4
9 Nucleic Acid Synthesis Inhibitors Phase 4
10 Reverse Transcriptase Inhibitors Phase 4
11
Primaquine Approved Phase 2, Phase 3 90-34-6 4908
12 Antimalarials Phase 2, Phase 3
13 Antiparasitic Agents Phase 2, Phase 3
14 Antiprotozoal Agents Phase 2, Phase 3
15 Artemisinine Phase 2, Phase 3
16 Artemisinins Phase 2, Phase 3
17
Dihydroartemisinin Phase 2, Phase 3 71939-50-9 6918483
18
Piperaquine Phase 2, Phase 3 4085-31-8 5079497
19 pyruvate Nutraceutical Phase 3,Phase 2
20
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
21
Thiamine Approved, Nutraceutical, Vet_approved Phase 2 59-43-8 1130
22 Micronutrients Phase 2
23 Trace Elements Phase 2
24 Vitamin B Complex Phase 2
25 Vitamins Phase 2
26 Folate Nutraceutical Phase 2
27 Thiamin Nutraceutical Phase 2
28 Vitamin B9 Nutraceutical Phase 2
29 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genotype Based Personalized Prescription of Nevirapine Completed NCT00986063 Phase 4
2 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Recruiting NCT02616484 Phase 3 Dichloroacetate (DCA)
3 Evaluation of the Safety of Primaquine in Combination With Dihydroartemisinin-piperaquine in G6PD Deficient Males in The Gambia Terminated NCT02654730 Phase 2, Phase 3 Dihydroartemisinin-piperaquine (DHAP) administered to G6PD deficient;Dihydroartemisinin-piperaquine (DHAP) + 0.25 mg/kg primaquine administered to G6PD deficient;Dihydroartemisinin-piperaquine (DHAP) + 0.4 mg/kg primaquine administered to G6PD deficient;Dihydroartemisinin-piperaquine (DHAP) + 0.25 mg/kg primaquine administered to G6PD normal;Dihydroartemisinin-piperaquine (DHAP) + 0.4 mg/kg primaquine administered to G6PD normal
4 Thiamine vs. Placebo to Increase Oxygen Consumption After Cardiac Arrest Recruiting NCT02974257 Phase 2 Thiamine
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
Evidence that L-(+)-lactate dehydrogenase deficiency is lethal in Streptococcus mutans. ( 8262650 )
1994
4
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
5
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients. ( 7944300 )
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
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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