MCID: ALP011
MIFTS: 42

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 2 alpha ketoglutarate dehydrogenase deficiency, 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:47 203740

Aliases & Classifications for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 24GTR, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Alpha-Ketoglutarate Dehydrogenase Deficiency, Aliases & Descriptions:

Name: Alpha-Ketoglutarate Dehydrogenase Deficiency 47 11 43 49 24 62
2 Alpha Ketoglutarate Dehydrogenase Deficiency 43 62
Oxoglutaricaciduria 43 49
 
Alpha Kgd Deficiency 43
Alpha-Kgd Deficiency 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
alpha-ketoglutarate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood


External Ids:

OMIM47 203740
Orphanet49 31
MESH via Orphanet36 C536582
ICD10 via Orphanet28 E88.8
UMLS via Orphanet63 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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis30.5DLD, PDHA1
2leigh syndrome10.0PDHA1
3wernicke-korsakoff syndrome10.0OGDH
4metabolic acidosis10.0DLD, OGDH
5parkinson disease, late-onset10.0OGDH, DLST
6primary biliary cirrhosis10.0OGDH, DLD
7alzheimer 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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Symptoms by clinical synopsis from OMIM:

203740

Clinical features from OMIM:

203740

Symptoms:

 49 (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 Deficiency24

Anatomical Context for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

33
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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4OGDH, DLST
29.3DLST, PDHA1
3
Show member pathways
glycolysis38
gluconeogenesis38
Glycolysis and Gluconeogenesis38
9.0DLD, PDHA1
4
Show member pathways
methylglyoxal degradation VI38
methylglyoxal degradation I38
9.0PDHA1, DLD
5
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
8.6DLD, DLST, OGDH
6
Show member pathways
8.0OGDH, DLST, DLD, PDHA1
7
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
8.0PDHA1, DLD, DLST, OGDH
8
Show member pathways
8.0OGDH, DLST, DLD, PDHA1
9
Show member pathways
TCA cycle38
pyruvate decarboxylation to acetyl CoA38
NAD phosphorylation and dephosphorylation38
TCA Cycle38
conversion of glucose to acetyl CoA and entry into the TCA cycle38
8.0OGDH, DLST, DLD, PDHA1

Compounds for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
26HMDB, 45Novoseek, 3BitterDB, 13DrugBank, 30IUPHAR, 51PharmGKB
See all sources

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

(show all 32)
idCompoundScoreTop Affiliating Genes
1(S)-Succinyldihydrolipoamide269.8DLST, OGDH
2S-Glutaryldihydrolipoamide269.8OGDH, DLST
32-(a-Hydroxyethyl)thiamine diphosphate269.7OGDH, PDHA1
4S-Acetyldihydrolipoamide-E269.7OGDH, PDHA1
5thiamine pyrophosphate45 2610.6OGDH, PDHA1
62-Ketobutyric acid269.6OGDH, PDHA1
7thiamine45 3 26 1312.6OGDH, PDHA1
8carnitine459.5OGDH, PDHA1
9Oxoadipic acid269.5DLD, OGDH
102-oxo acid459.5OGDH, DLD
11citrate459.4PDHA1, OGDH
12Oxoglutaric acid269.4OGDH, DLD
13alpha lipoic acid459.4OGDH, DLD
14peroxynitrite459.3DLD, OGDH
15glycogen45 2610.3OGDH, PDHA1
16nad+459.3OGDH, DLD
17Pyruvic acid26 1310.3DLD, PDHA1
18carbon459.1OGDH, DLD
19glutaryl-coa45 2610.0OGDH, DLST, DLD
20dihydrolipoamide45 2610.0OGDH, DLST, DLD
21Succinyl-CoA269.0DLD, DLST, OGDH
22alpha-ketoglutarate459.0OGDH, DLST, DLD
23acetyl-coa45 269.9DLD, PDHA1
24lipoamide45 269.9PDHA1, DLD, OGDH
25Coenzyme A26 139.9PDHA1, DLD, OGDH
26carbon dioxide45 269.9OGDH, DLD, PDHA1
27nad30 269.8PDHA1, DLD, OGDH
28nadh45 26 1310.8PDHA1, DLD, OGDH
29lactate458.8PDHA1, DLD, OGDH
30chloramphenicol45 3 51 1311.7DLD, PDHA1
31oxygen45 269.6OGDH, DLD, PDHA1
32pyruvate458.4OGDH, 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/GeneDecks:

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/GeneDecks:

(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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet