MCID: LCT007
MIFTS: 13

Lactate Dehydrogenase a Deficiency malady

Rare diseases category
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Summaries for Lactate Dehydrogenase a Deficiency

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NIH Rare Diseases:42 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 based summary: 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 LDHA (lactate dehydrogenase A). Affiliated tissues include kidney and skin.

Aliases & Classifications for Lactate Dehydrogenase a Deficiency

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Lactate Dehydrogenase a Deficiency, Aliases & Descriptions:

Name: Lactate Dehydrogenase a Deficiency 42
Lactate Dehydrogenase Deficiency Type a 42 62
 
Glycogen Storage Disease Xi 42 62


Classifications:

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


Related Diseases for Lactate Dehydrogenase a Deficiency

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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 deficiency10.5
2fanconi bickel syndrome10.2

Symptoms for Lactate Dehydrogenase a Deficiency

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Drugs & Therapeutics for Lactate Dehydrogenase a Deficiency

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Drug clinical trials:

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Genetic Tests for Lactate Dehydrogenase a Deficiency

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Anatomical Context for Lactate Dehydrogenase a Deficiency

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MalaCards organs/tissues related to Lactate Dehydrogenase a Deficiency:

32
Kidney, Skin

Animal Models for Lactate Dehydrogenase a Deficiency or affiliated genes

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Publications for Lactate Dehydrogenase a Deficiency

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Articles related to Lactate Dehydrogenase a Deficiency:

idTitleAuthorsYear
1
Characterization of the oxidative metabolism in lactate dehydrogenase A deficiency. (7549132)
1995
2
Characterization of the glycolysis in lactate dehydrogenase-A deficiency. (7630349)
1995
3
Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency. (8327147)
1993

Variations for Lactate Dehydrogenase a Deficiency

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Expression for genes affiliated with Lactate Dehydrogenase a Deficiency

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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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Compounds for genes affiliated with Lactate Dehydrogenase a Deficiency

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GO Terms for genes affiliated with Lactate Dehydrogenase a Deficiency

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Products for genes affiliated with Lactate Dehydrogenase a Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Lactate Dehydrogenase a Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet