MCID: LCT008
MIFTS: 15

Lactate Dehydrogenase Deficiency malady

Rare diseases, Metabolic diseases categories

Summaries for Lactate Dehydrogenase Deficiency

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NIH Rare Diseases:41 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 ldh deficiency, is related to lactate dehydrogenase-b deficiency and lactate dehydrogenase deficiency type c.

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

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Lactate Dehydrogenase Deficiency, Aliases & Descriptions:

Name: Lactate Dehydrogenase Deficiency 41 21 60
Ldh Deficiency 41 21 47
Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 41 47
Glycogenosis Due to Lactate Dehydrogenase Deficiency 41 47
 
Gsd Due to Lactate Dehydrogenase Deficiency 41 47
Lactate Dehydrogenase Subunit Deficiencies 21 60
Deficiency of Lactate Dehydrogenase 21


Classifications:

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


External Ids:

Orphanet47 2364
ICD10 via Orphanet26 E74.4

Related Diseases for Lactate Dehydrogenase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1lactate dehydrogenase-b deficiency10.4
2lactate dehydrogenase deficiency type c10.4
3fanconi-bickel syndrome10.3
4pneumonia10.2

Symptoms for Lactate Dehydrogenase Deficiency

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Drugs & Therapeutics for Lactate Dehydrogenase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Lactate Dehydrogenase Deficiency

Search NIH Clinical Center for Lactate Dehydrogenase Deficiency

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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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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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
  • Proteins
  • Kits and Assays

Sources for Lactate Dehydrogenase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet