MCID: ALP011
MIFTS: 39

Alpha-Ketoglutarate Dehydrogenase Deficiency malady

Rare diseases, Neuronal diseases categories

Summaries for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
48OMIM, 34MalaCards
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MalaCards: Alpha-Ketoglutarate Dehydrogenase Deficiency, also known as oxoglutaricaciduria, is related to lactic acidosis and leigh disease, and has symptoms including anomaly/ectopia/hypoplasia/atresia of salivary glands/salivary duct, organic acid metabolism anomalies and movement disorder. 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 S-Glutaryldihydrolipoamide have been mentioned in the context of this disorder. Affiliated tissues include salivary gland.

Description from OMIM:48 203740

Aliases & Classifications for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
44NIH Rare Diseases, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
alpha-ketoglutarate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

alpha-ketoglutarate dehydrogenase deficiency 44 23 48 50 63
oxoglutaricaciduria 44 50
2 alpha ketoglutarate dehydrogenase deficiency 44
alpha kgd deficiency 44


External Ids:

OMIM48 203740
MESH via Orphanet37 C536582
ICD10 via Orphanet27 E88.8
UMLS via Orphanet64 C2752074

Related Diseases for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
18GeneCards, 19GeneDecks
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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
1lactic acidosis30.5DLD, PDHA1
2leigh disease10.1PDHA1
3wernicke-korsakoff syndrome10.0OGDH
4metabolic acidosis10.0DLD, OGDH
5parkinson's disease10.0OGDH, DLST
6primary biliary cirrhosis9.9OGDH, DLD
7alzheimer's disease9.9OGDH, DLST, DLD

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



Diseases related to alpha-ketoglutarate dehydrogenase deficiency

Symptoms for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

203740

Clinical features from OMIM:

203740

Symptoms:

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

Drugs & Therapeutics for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

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Sources:
23GTR
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Genetic tests related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Alpha-Ketoglutarate Dehydrogenase Deficiency23

Anatomical Context for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
34MalaCards
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MalaCards organs/tissues related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

34
Salivary gland

Animal Models for Alpha-Ketoglutarate Dehydrogenase Deficiency or affiliated genes

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Publications for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
53PubMed
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Articles related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

idTitleAuthorsYear
1
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. (15712224)
2005
2
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. (1640293)
1992

Variations for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Expression for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 31KEGG, 5Cell Signaling Technology, 61Thomson Reuters, 39NCBI BioSystems Database, 56Reactome, 52PharmGKB
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Pathways related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4OGDH, DLST
29.3DLST, PDHA1
3
Show member pathways
glycolysis39
gluconeogenesis39
Glycolysis and Gluconeogenesis39
9.0DLD, PDHA1
4
Show member pathways
methylglyoxal degradation VI39
methylglyoxal degradation I39
9.0PDHA1, DLD
5
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
8.6DLD, DLST, OGDH
6
Show member pathways
8.0OGDH, DLST, DLD, PDHA1
7
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
8.0PDHA1, DLD, DLST, OGDH
8
Show member pathways
8.0OGDH, DLST, DLD, PDHA1
9
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
8.0OGDH, DLST, DLD, PDHA1

Compounds for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
25HMDB, 46Novoseek, 3BitterDB, 12DrugBank, 30IUPHAR, 52PharmGKB
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Compounds related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1(S)-Succinyldihydrolipoamide259.8DLST, OGDH
2S-Glutaryldihydrolipoamide259.8OGDH, DLST
32-(a-Hydroxyethyl)thiamine diphosphate259.7OGDH, PDHA1
4S-Acetyldihydrolipoamide-E259.7OGDH, PDHA1
5thiamine pyrophosphate46 2510.6OGDH, PDHA1
62-Ketobutyric acid259.6OGDH, PDHA1
7thiamine46 3 25 1212.6OGDH, PDHA1
8carnitine469.5OGDH, PDHA1
9Oxoadipic acid259.5DLD, OGDH
102-oxo acid469.5OGDH, DLD
11citrate469.4PDHA1, OGDH
12Oxoglutaric acid259.4OGDH, DLD
13alpha lipoic acid469.4OGDH, DLD
14peroxynitrite469.3DLD, OGDH
15glycogen46 2510.3OGDH, PDHA1
16nad+469.3OGDH, DLD
17Pyruvic acid25 1210.3DLD, PDHA1
18carbon469.1OGDH, DLD
19glutaryl-coa46 2510.0OGDH, DLST, DLD
20dihydrolipoamide46 2510.0OGDH, DLST, DLD
21Succinyl-CoA259.0DLD, DLST, OGDH
22alpha-ketoglutarate469.0OGDH, DLST, DLD
23acetyl-coa46 259.9DLD, PDHA1
24lipoamide46 259.9PDHA1, DLD, OGDH
25Coenzyme A25 129.9PDHA1, DLD, OGDH
26carbon dioxide46 259.9OGDH, DLD, PDHA1
27nad30 259.8PDHA1, DLD, OGDH
28nadh46 25 1210.8PDHA1, DLD, OGDH
29lactate468.8PDHA1, DLD, OGDH
30chloramphenicol46 3 52 1211.7DLD, PDHA1
31oxygen46 259.6OGDH, DLD, PDHA1
32pyruvate468.4OGDH, DLST, DLD, PDHA1

GO Terms for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
17Gene Ontology
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Cellular components related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxoglutarate dehydrogenase complexGO:0452529.1OGDH, DLST
2mitochondrionGO:0057398.5OGDH, DLD, PDHA1
3mitochondrial matrixGO:0057597.9OGDH, DLST, DLD, PDHA1

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:0060919.4OGDH, DLST
2regulation of acetyl-CoA biosynthetic process from pyruvateGO:0105109.1DLD, PDHA1
3glycolytic processGO:0060969.0OGDH, PDHA1
4pyruvate metabolic processGO:0060908.9DLD, PDHA1
5lysine catabolic processGO:0065548.8DLD, DLST, OGDH
6cellular nitrogen compound metabolic processGO:0346418.7DLD, DLST, OGDH
7tricarboxylic acid cycleGO:0060998.2OGDH, DLST, DLD, PDHA1
8cellular metabolic processGO:0442378.1OGDH, DLST, DLD, PDHA1
9small molecule metabolic processGO:0442818.0PDHA1, DLD, DLST, OGDH

Products for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-Ketoglutarate 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