MCID: LCT008
MIFTS: 14

Lactate Dehydrogenase Deficiency malady

Rare diseases category

Summaries for Lactate Dehydrogenase Deficiency

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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 b deficiency.

Aliases & Classifications for Lactate Dehydrogenase Deficiency

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44NIH Rare Diseases, 22Genetics Home Reference, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

lactate dehydrogenase deficiency 44 22
lactate dehydrogenase subunit deficiencies 22
deficiency of l-lactate dehydrogenase 63
deficiency of lactate dehydrogenase 22
ldh deficiency 22


Related Diseases for Lactate Dehydrogenase Deficiency

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18GeneCards, 19GeneDecks
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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 b deficiency10.4
3lactate dehydrogenase a deficiency10.3
4lactate dehydrogenase deficiency type c10.3
5pneumonia10.2
6klebsiella10.2

Graphical network of diseases related to Lactate Dehydrogenase Deficiency:



Diseases related to lactate dehydrogenase deficiency

Symptoms for Lactate Dehydrogenase Deficiency

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Drugs & Therapeutics for Lactate Dehydrogenase Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Lactate Dehydrogenase Deficiency

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Genetic Tests for Lactate Dehydrogenase Deficiency

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Anatomical Context for Lactate Dehydrogenase Deficiency

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Animal Models for Lactate Dehydrogenase Deficiency or affiliated genes

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Publications for Lactate Dehydrogenase Deficiency

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53PubMed
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Articles related to Lactate Dehydrogenase Deficiency:

idTitleAuthorsYear
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
L-(+)-lactate dehydrogenase deficiency is lethal in Streptococcus mutans. (8113201)
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
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients. (7944300)
1994
7
Serotype c Streptococcus mutans mutatable to lactate dehydrogenase deficiency. (3912415)
1985

Variations for Lactate Dehydrogenase Deficiency

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Expression for genes affiliated with Lactate Dehydrogenase Deficiency

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Sources:
16Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Lactate Dehydrogenase Deficiency.

Pathways for genes affiliated with Lactate Dehydrogenase Deficiency

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Compounds for genes affiliated with Lactate Dehydrogenase Deficiency

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GO Terms for genes affiliated with Lactate Dehydrogenase Deficiency

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Products for genes affiliated with Lactate Dehydrogenase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lactate Dehydrogenase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet