MCID: LCT008
MIFTS: 15

Lactate Dehydrogenase Deficiency

Categories: Rare diseases

Aliases & Classifications for Lactate Dehydrogenase Deficiency

MalaCards integrated aliases for Lactate Dehydrogenase Deficiency:

Name: Lactate Dehydrogenase Deficiency 49 24 69
Lactate Dehydrogenase Subunit Deficiencies 24
Deficiency of Lactate Dehydrogenase 24
Ldh Deficiency 24

Classifications:



External Ids:

UMLS 69 C0342769

Summaries for Lactate Dehydrogenase Deficiency

NIH Rare Diseases : 49 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 drug Pharmaceutical Solutions has been mentioned in the context of this disorder.

Genetics Home Reference : 24 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:

# Related Disease Score Top Affiliating Genes
1 glycogen storage disease due to lactate dehydrogenase deficiency 12.4
2 lactate dehydrogenase deficiency type c 12.1
3 lactate dehydrogenase b deficiency 11.5
4 fanconi-bickel syndrome 11.3
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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:

# 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
L-(+)-lactate dehydrogenase deficiency is lethal in Streptococcus mutans. ( 8113201 )
1994
6
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
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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