MCID: LCT008
MIFTS: 24

Lactate Dehydrogenase Deficiency malady

Summaries for Lactate Dehydrogenase Deficiency

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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: Lactate Dehydrogenase Deficiency, also known as lactate dehydrogenase subunit deficiencies, is related to fanconi bickel syndrome and lactate dehydrogenase a deficiency. An important gene associated with Lactate Dehydrogenase Deficiency is LDHB (lactate dehydrogenase B), and among its related pathways are Glycolysis and gluconeogenesis (short map) and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds Oxamic Acid and Nicotinamide-Adenine-Dinucleotide have been mentioned in the context of this disorder. Affiliated tissues include b cells.

Genetics Home Reference:21 Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.

Aliases & Classifications for Lactate Dehydrogenase Deficiency

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 61UMLS
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Aliases & Descriptions:

lactate dehydrogenase deficiency 43 21
lactate dehydrogenase subunit deficiencies 21
deficiency of l-lactate dehydrogenase 61
deficiency of lactate dehydrogenase 21
ldh deficiency 21


Related Diseases for Lactate Dehydrogenase Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Lactate Dehydrogenase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fanconi bickel syndrome10.5
2lactate dehydrogenase a deficiency10.4
3lactate dehydrogenase b deficiency10.4
4lactate dehydrogenase deficiency type c10.3
5klebsiella10.2
6myocardial infarction10.0LDHA, LDHB

Graphical network of diseases related to Lactate Dehydrogenase Deficiency:



Diseases related to lactate dehydrogenase deficiency

Clinical Features for Lactate Dehydrogenase Deficiency

Drugs & Therapeutics for Lactate Dehydrogenase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Lactate Dehydrogenase Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Lactate Dehydrogenase Deficiency

Search CenterWatch for Lactate Dehydrogenase Deficiency

Genetic Tests for Lactate Dehydrogenase Deficiency

Anatomical Context for Lactate Dehydrogenase Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Lactate Dehydrogenase Deficiency:

33
B cells

Animal Models for Lactate Dehydrogenase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Lactate Dehydrogenase Deficiency

Sources:
51PubMed
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Articles related to Lactate Dehydrogenase Deficiency:

(show all 18)
idTitleAuthorsYear
1
Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-SchAPnberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders. (20499337)
2010
2
Lactate Dehydrogenase M subunit deficiency]. (12166075)
2002
3
A novel in-frame deletion mutation in a case of lactate dehydrogenase (LD) H subunit deficiency showing an atypical LD isoenzyme pattern in serum and erythrocytes. (10211631)
1999
4
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
5
Characterization of the oxidative metabolism in lactate dehydrogenase A deficiency. (7549132)
1995
6
Characterization of the glycolysis in lactate dehydrogenase-A deficiency. (7630349)
1995
7
Genetic analysis of a family of lactate dehydrogenase A subunit deficiency. (7647396)
1995
8
L-(+)-lactate dehydrogenase deficiency is lethal in Streptococcus mutans. (8113201)
1994
9
Evidence that L-(+)-lactate dehydrogenase deficiency is lethal in Streptococcus mutans. (8262650)
1994
10
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients. (7944300)
1994
11
Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency. (8327147)
1993
12
Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B(H) deficiency using DNA conformation polymorphism analysis and silver staining. (8462975)
1993
13
Gene expression in lactate dehydrogenase-A subunit deficiency]. (1297552)
1992
14
Myoglobinuria due to enzyme abnormalities in glycolytic pathway--especially lactate dehydrogenase M subunit deficiency]. (1828277)
1991
15
Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining. (1953713)
1991
16
Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplification. (1959923)
1991
17
Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. (2334430)
1990
18
Serotype c Streptococcus mutans mutatable to lactate dehydrogenase deficiency. (3912415)
1985

Genetic Variations for Lactate Dehydrogenase Deficiency

Expression for genes affiliated with Lactate Dehydrogenase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lactate Dehydrogenase Deficiency

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

Pathways for genes affiliated with Lactate Dehydrogenase Deficiency

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 54Reactome, 52QIAGEN
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Compounds for genes affiliated with Lactate Dehydrogenase Deficiency

Sources:
11DrugBank, 45Novoseek, 29IUPHAR, 24HMDB
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Compounds related to Lactate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Oxamic Acid119.2LDHA, LDHB
2Nicotinamide-Adenine-Dinucleotide119.2LDHA, LDHB
3pyruvate459.1LDHA, LDHB
4lactate459.1LDHA, LDHB
5nad29 2410.0LDHB, LDHA
6nadh45 11 2410.8LDHA, LDHB

GO Terms for genes affiliated with Lactate Dehydrogenase Deficiency

Sources:
16Gene Ontology
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Biological processes related to Lactate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular carbohydrate metabolic processGO:0442629.1LDHA, LDHB
2cellular metabolic processGO:0442379.1LDHA, LDHB
3pyruvate metabolic processGO:0060909.0LDHA, LDHB
4glycolysisGO:0060968.8LDHA, LDHB

Molecular functions related to Lactate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1L-lactate dehydrogenase activityGO:0044599.1LDHA, LDHB

Products for genes affiliated with Lactate Dehydrogenase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lactate Dehydrogenase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet