MCID: ALP011
MIFTS: 33

Alpha-Ketoglutarate Dehydrogenase Deficiency malady

Neuronal, Metabolic categories

Summaries for Alpha-Ketoglutarate Dehydrogenase Deficiency

Sources:
47OMIM, 33MalaCards
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MalaCards: Alpha-Ketoglutarate Dehydrogenase Deficiency, also known as oxoglutaricaciduria, is related to dihydrolipoamide dehydrogenase deficiency and wernicke-korsakoff syndrome, and has symptoms including autosomal recessive inheritance, hypertonia/spasticity/rigidity/stiffness and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Alpha-Ketoglutarate Dehydrogenase Deficiency is OGDH (oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)), and among its related pathways are Lysine degradation and Glucose / Energy Metabolism. The compounds (S)-Succinyldihydrolipoamide and thiamine pyrophosphate have been mentioned in the context of this disorder.

Description from OMIM:47 203740

Aliases & Classifications for Alpha-Ketoglutarate Dehydrogenase Deficiency

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic


Characteristics (Orphanet epidemiological data):

49
alpha-ketoglutarate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

alpha-ketoglutarate dehydrogenase deficiency 43 22 47 49 61
oxoglutaricaciduria 43 49
2 alpha ketoglutarate dehydrogenase deficiency 43
alpha kgd deficiency 43


External Ids:

OMIM47 203740
MESH via Orphanet36 C536582
ICD10 via Orphanet26 E88.8
UMLS via Orphanet62 C2752074

Related Diseases for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1dihydrolipoamide dehydrogenase deficiency10.3
2wernicke-korsakoff syndrome10.0OGDH
3pyruvate decarboxylase deficiency10.0PDHA1
4maple syrup urine disease10.0DLD
5parkinson's disease10.0DLST, OGDH
6lactic acidosis10.0PDHA1, DLD
7primary biliary cirrhosis10.0DLD, OGDH
8leigh disease10.0DLD, PDHA1
9metabolic acidosis10.0DLD, OGDH

Graphical network of diseases related to Alpha-Ketoglutarate Dehydrogenase Deficiency:



Diseases related to alpha-ketoglutarate dehydrogenase deficiency

Clinical Features for Alpha-Ketoglutarate Dehydrogenase Deficiency

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

203740

Clinical synopsis from OMIM:

203740

Symptoms:

49 (show all 10)
  • autosomal recessive inheritance
  • hypertonia/spasticity/rigidity/stiffness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ataxia/incoordination/trouble of the equilibrium
  • hydrocephaly
  • short stature/dwarfism/nanism
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • movement disorder
  • organic acid metabolism anomalies
  • anomaly/ectopia/hypoplasia/atresia of salivary glands/salivary duct

Drugs & Therapeutics for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

Search CenterWatch for Alpha-Ketoglutarate Dehydrogenase Deficiency

Drug clinical trials:

Search ClinicalTrials for Alpha-Ketoglutarate Dehydrogenase Deficiency

Search NIH Clinical Center for Alpha-Ketoglutarate Dehydrogenase Deficiency

Search CenterWatch for Alpha-Ketoglutarate Dehydrogenase Deficiency

Genetic Tests for Alpha-Ketoglutarate Dehydrogenase Deficiency

Sources:
22GTR
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Genetic tests related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Alpha-ketoglutarate Dehydrogenase Deficiency22

Anatomical Context for Alpha-Ketoglutarate Dehydrogenase Deficiency

Animal Models for Alpha-Ketoglutarate Dehydrogenase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Alpha-Ketoglutarate Dehydrogenase Deficiency

Sources:
51PubMed
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Articles related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

idTitleAuthorsYear
1
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. (24341803)
2013
2
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. (15712224)
2005
3
Thiamine deficiency decreases steady-state transketolase and pyruvate dehydrogenase but not alpha-ketoglutarate dehydrogenase mRNA levels in three human cell types. (9521628)
1998
4
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. (1640293)
1992

Genetic Variations for Alpha-Ketoglutarate Dehydrogenase Deficiency

Expression for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

Search GEO for disease gene expression data for Alpha-Ketoglutarate Dehydrogenase Deficiency.

Pathways for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

Sources:
30KEGG, 4Cell Signaling Technology, 54Reactome, 38NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

Sources:
24HMDB, 45Novoseek, 2BitterDB, 11DrugBank, 29IUPHAR
See all sources

Compounds related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1(S)-Succinyldihydrolipoamide249.8OGDH, DLST
2thiamine pyrophosphate45 2410.6PDHA1, OGDH
3thiamine45 2 11 2412.6PDHA1, OGDH
4carnitine459.4PDHA1, OGDH
52-oxo acid459.4DLD, OGDH
6alpha lipoic acid459.3DLD, OGDH
7peroxynitrite459.3OGDH, DLD
8Pyruvic acid11 2410.2DLD, PDHA1
9citrate459.2PDHA1, OGDH
10nad+459.2DLD, OGDH
11acetyl-coa45 2410.0DLD, PDHA1
12glutaryl-coa45 2410.0DLD, DLST, OGDH
13dihydrolipoamide45 2410.0OGDH, DLST, DLD
14alpha-ketoglutarate458.9DLD, DLST, OGDH
15lipoamide45 249.9DLD, PDHA1, OGDH
16carbon458.8DLD, OGDH
17Coenzyme A11 249.8DLD, PDHA1, OGDH
18carbon dioxide45 249.8OGDH, PDHA1, DLD
19nad29 249.8OGDH, PDHA1, DLD
20nadh45 11 2410.8DLD, PDHA1, OGDH
21lactate458.7OGDH, PDHA1, DLD
22oxygen45 249.5OGDH, PDHA1, DLD
23pyruvate458.3DLD, DLST, PDHA1, OGDH

GO Terms for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxoglutarate dehydrogenase complexGO:0452529.1OGDH, DLST
2mitochondrionGO:0057398.0DLD, DLST, PDHA1, OGDH
3mitochondrial matrixGO:0057597.9DLD, DLST, PDHA1, OGDH

Biological processes related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1generation of precursor metabolites and energyGO:0060919.4DLST, OGDH
2regulation of acetyl-CoA biosynthetic process from pyruvateGO:0105109.1DLD, PDHA1
3glycolysisGO:0060969.0PDHA1, OGDH
4pyruvate metabolic processGO:0060909.0DLD, PDHA1
5lysine catabolic processGO:0065548.8OGDH, DLST, DLD
6cellular nitrogen compound metabolic processGO:0346418.7OGDH, DLST, DLD
7tricarboxylic acid cycleGO:0060998.2DLD, DLST, PDHA1, OGDH
8cellular metabolic processGO:0442378.1DLD, DLST, PDHA1, OGDH
9small molecule metabolic processGO:0442817.9OGDH, PDHA1, DLST, DLD

Products for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-Ketoglutarate 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