MCID: ALP011
MIFTS: 36

Alpha-Ketoglutarate Dehydrogenase Deficiency malady

Rare diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Alpha-Ketoglutarate Dehydrogenase Deficiency

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MalaCards based summary: Alpha-Ketoglutarate Dehydrogenase Deficiency, also known as oxoglutaricaciduria, is related to lactic acidosis and leigh syndrome, and has symptoms including hypertonia, incoordination and amyotrophy. 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:45 203740

Aliases & Classifications for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Alpha-Ketoglutarate Dehydrogenase Deficiency, Aliases & Descriptions:

Name: Alpha-Ketoglutarate Dehydrogenase Deficiency 45 10 41 47 22 60
Oxoglutaricaciduria 41 47
 
2 Alpha Ketoglutarate Dehydrogenase Deficiency 41
Alpha Kgd Deficiency 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
alpha-ketoglutarate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood


External Ids:

OMIM45 203740
Orphanet47 31
MESH via Orphanet34 C536582
ICD10 via Orphanet26 E88.8
UMLS via Orphanet61 C2752074

Related Diseases for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis30.6PDHA1, DLD
2leigh syndrome10.2PDHA1
3wernicke-korsakoff syndrome10.2OGDH
4metabolic acidosis9.9DLD, OGDH
5parkinson disease, late-onset9.8DLST, OGDH
6primary biliary cirrhosis9.7DLD, OGDH
7alzheimer disease9.6DLD, DLST, OGDH

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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Symptoms by clinical synopsis from OMIM:

203740

Clinical features from OMIM:

203740

Symptoms:

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

HPO human phenotypes related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

(show all 13)
id Description Frequency HPO Source Accession
1 hypertonia hallmark (90%) HP:0001276
2 incoordination hallmark (90%) HP:0002311
3 amyotrophy hallmark (90%) HP:0003202
4 short stature hallmark (90%) HP:0004322
5 cognitive impairment hallmark (90%) HP:0100543
6 hydrocephalus typical (50%) HP:0000238
7 abnormality of the salivary glands typical (50%) HP:0010286
8 abnormality of movement typical (50%) HP:0100022
9 autosomal recessive inheritance HP:0000007
10 muscular hypotonia HP:0001252
11 metabolic acidosis HP:0001942
12 increased serum lactate HP:0002151
13 congenital lactic acidosis HP:0004902

Drugs & Therapeutics for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Alpha-Ketoglutarate Dehydrogenase Deficiency

Search NIH Clinical Center for Alpha-Ketoglutarate Dehydrogenase Deficiency

Genetic Tests for Alpha-Ketoglutarate Dehydrogenase Deficiency

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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

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

31
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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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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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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Pathways related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4OGDH, DLST
29.3DLST, PDHA1
3
Show member pathways
glycolysis36
gluconeogenesis36
Glycolysis and Gluconeogenesis36
9.0DLD, PDHA1
4
Show member pathways
methylglyoxal degradation VI36
methylglyoxal degradation I36
9.0PDHA1, DLD
5
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
8.6DLD, DLST, OGDH
6
Show member pathways
8.0OGDH, DLST, DLD, PDHA1
7
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.0PDHA1, DLD, DLST, OGDH
8
Show member pathways
8.0OGDH, DLST, DLD, PDHA1
9
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
8.0OGDH, DLST, DLD, PDHA1

Compounds for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
24HMDB, 43Novoseek, 2BitterDB, 12DrugBank, 28IUPHAR, 49PharmGKB
See all sources

Compounds related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 32)
idCompoundScoreTop Affiliating Genes
1(S)-Succinyldihydrolipoamide249.8DLST, OGDH
2S-Glutaryldihydrolipoamide249.8OGDH, DLST
32-(a-Hydroxyethyl)thiamine diphosphate249.7OGDH, PDHA1
4S-Acetyldihydrolipoamide-E249.7OGDH, PDHA1
5thiamine pyrophosphate43 2410.6OGDH, PDHA1
62-Ketobutyric acid249.6OGDH, PDHA1
7thiamine43 2 24 1212.6OGDH, PDHA1
8carnitine439.5OGDH, PDHA1
9Oxoadipic acid249.5DLD, OGDH
102-oxo acid439.5OGDH, DLD
11citrate439.4PDHA1, OGDH
12Oxoglutaric acid249.4OGDH, DLD
13alpha lipoic acid439.4OGDH, DLD
14peroxynitrite439.3DLD, OGDH
15glycogen43 2410.3OGDH, PDHA1
16nad+439.3OGDH, DLD
17Pyruvic acid24 1210.3DLD, PDHA1
18carbon439.1OGDH, DLD
19glutaryl-coa43 2410.0OGDH, DLST, DLD
20dihydrolipoamide43 2410.0OGDH, DLST, DLD
21Succinyl-CoA249.0DLD, DLST, OGDH
22alpha-ketoglutarate439.0OGDH, DLST, DLD
23acetyl-coa43 249.9DLD, PDHA1
24lipoamide43 249.9PDHA1, DLD, OGDH
25Coenzyme A24 129.9PDHA1, DLD, OGDH
26carbon dioxide43 249.9OGDH, DLD, PDHA1
27nad28 249.8PDHA1, DLD, OGDH
28nadh43 24 1210.8PDHA1, DLD, OGDH
29lactate438.8PDHA1, DLD, OGDH
30chloramphenicol43 2 49 1211.7DLD, PDHA1
31oxygen43 249.6OGDH, DLD, PDHA1
32pyruvate438.4OGDH, DLST, DLD, PDHA1

GO Terms for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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Cellular components related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxoglutarate dehydrogenase complexGO:00452529.1OGDH, DLST
2mitochondrionGO:00057398.5OGDH, DLD, PDHA1
3mitochondrial matrixGO:00057597.9OGDH, DLST, DLD, PDHA1

Biological processes related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1generation of precursor metabolites and energyGO:00060919.4OGDH, DLST
2regulation of acetyl-CoA biosynthetic process from pyruvateGO:00105109.1DLD, PDHA1
3glycolytic processGO:00060969.0OGDH, PDHA1
4pyruvate metabolic processGO:00060908.9DLD, PDHA1
5lysine catabolic processGO:00065548.8DLD, DLST, OGDH
6cellular nitrogen compound metabolic processGO:00346418.7DLD, DLST, OGDH
7tricarboxylic acid cycleGO:00060998.2OGDH, DLST, DLD, PDHA1
8cellular metabolic processGO:00442378.1OGDH, DLST, DLD, PDHA1
9small molecule metabolic processGO:00442818.0PDHA1, DLD, DLST, OGDH

Products for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Alpha-Ketoglutarate 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