MCID: LCT007
MIFTS: 19

Lactate Dehydrogenase a Deficiency malady

Summaries for Lactate Dehydrogenase a Deficiency

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Lactate dehydrogenase a deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. people with this condition experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). in some people, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. a skin rash may also develop. the severity of the signs and symptoms varies greatly among affected individuals. lactate dehydrogenase a deficiency is caused by mutations in the ldha gene. this condition is inherited in an autosomal recessive pattern. last updated: 12/27/2012

MalaCards: Lactate Dehydrogenase a Deficiency, also known as lactate dehydrogenase deficiency type a, is related to lactate dehydrogenase deficiency and fanconi bickel syndrome. An important gene associated with Lactate Dehydrogenase a Deficiency is GPD1 (glycerol-3-phosphate dehydrogenase 1 (soluble)), and among its related pathways is Metabolism. The compounds glyceraldehyde 3-phosphate and pyruvate have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin.

Aliases & Classifications for Lactate Dehydrogenase a Deficiency

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43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

lactate dehydrogenase a deficiency 43
lactate dehydrogenase deficiency type a 43 61
glycogen storage disease xi 43


Related Diseases for Lactate Dehydrogenase a Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1lactate dehydrogenase deficiency10.6
2fanconi bickel syndrome10.2
3obesity10.0GPD1

Clinical Features for Lactate Dehydrogenase a Deficiency

Drugs & Therapeutics for Lactate Dehydrogenase a Deficiency

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

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Drug clinical trials:

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Genetic Tests for Lactate Dehydrogenase a Deficiency

Anatomical Context for Lactate Dehydrogenase a Deficiency

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

33
Kidney, Skin

Animal Models for Lactate Dehydrogenase a Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Lactate Dehydrogenase a Deficiency

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51PubMed
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Articles related to Lactate Dehydrogenase a Deficiency:

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
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
3
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
4
Genetic analysis of a family of lactate dehydrogenase A subunit deficiency. (7647396)
1995
5
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
6
Myoglobinuria due to enzyme abnormalities in glycolytic pathway--especially lactate dehydrogenase M subunit deficiency]. (1828277)
1991
7
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
8
Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplification. (1959923)
1991

Genetic Variations for Lactate Dehydrogenase a Deficiency

Expression for genes affiliated with Lactate Dehydrogenase a Deficiency

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

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Pathways for genes affiliated with Lactate Dehydrogenase a Deficiency

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54Reactome, 30KEGG
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Pathways related to Lactate Dehydrogenase a Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1LDHA, GPD1

Compounds for genes affiliated with Lactate Dehydrogenase a Deficiency

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

idCompoundScoreTop Affiliating Genes
1glyceraldehyde 3-phosphate459.3LDHA, GPD1
2pyruvate459.3GPD1, LDHA
3nad29 2410.2GPD1, LDHA
4nadh45 11 2411.2GPD1, LDHA
5nadph45 2410.1LDHA, GPD1
6glucose459.1LDHA, GPD1
7lactate459.0LDHA, GPD1
8nitric oxide45 11 2410.8GPD1, LDHA

GO Terms for genes affiliated with Lactate Dehydrogenase a Deficiency

Sources:
16Gene Ontology
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Cellular components related to Lactate Dehydrogenase a Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057399.1LDHA, GPD1

Products for genes affiliated with Lactate Dehydrogenase a Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lactate Dehydrogenase a 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