MCID: ALP011
MIFTS: 36

Alpha-Ketoglutarate Dehydrogenase Deficiency malady

Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Alpha-Ketoglutarate Dehydrogenase Deficiency:

Name: Alpha-Ketoglutarate Dehydrogenase Deficiency 46 9 42 48 22 61
Oxoglutaricaciduria 42 48
 
2 Alpha Ketoglutarate Dehydrogenase Deficiency 42
Alpha Kgd Deficiency 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
alpha-ketoglutarate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood


External Ids:

OMIM46 203740
Orphanet48 31
MESH via Orphanet34 C536582
ICD10 via Orphanet26 E88.8
UMLS via Orphanet62 C2752074

Summaries for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
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:46 203740

Related Diseases for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

203740

Clinical features from OMIM:

203740

Symptoms:

 48 (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

About this section

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

About this section

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

About this section

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

31
Salivary gland

Animal Models for Alpha-Ketoglutarate Dehydrogenase Deficiency or affiliated genes

About this section

Publications for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section

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

About this section

Expression for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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

Pathways for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section

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

About this section
Sources:
24HMDB, 44Novoseek, 1BitterDB, 11DrugBank, 28IUPHAR, 50PharmGKB
See all sources

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

(show all 32)
idCompoundScoreTop Affiliating Genes
1(S)-Succinyldihydrolipoamide249.8OGDH, DLST
2S-Glutaryldihydrolipoamide249.8OGDH, DLST
3S-Acetyldihydrolipoamide-E249.7OGDH, PDHA1
42-(a-Hydroxyethyl)thiamine diphosphate249.7OGDH, PDHA1
52-Ketobutyric acid249.6PDHA1, OGDH
6thiamine pyrophosphate44 2410.6PDHA1, OGDH
7thiamine44 1 24 1112.6PDHA1, OGDH
8carnitine449.5PDHA1, OGDH
9Oxoadipic acid249.5DLD, OGDH
102-oxo acid449.5DLD, OGDH
11citrate449.4OGDH, PDHA1
12Oxoglutaric acid249.4DLD, OGDH
13alpha lipoic acid449.4OGDH, DLD
14peroxynitrite449.3OGDH, DLD
15glycogen44 2410.3PDHA1, OGDH
16nad+449.3OGDH, DLD
17Pyruvic acid24 1110.3DLD, PDHA1
18carbon449.1DLD, OGDH
19glutaryl-coa44 2410.0DLD, DLST, OGDH
20dihydrolipoamide44 2410.0DLD, OGDH, DLST
21Succinyl-CoA249.0DLD, DLST, OGDH
22alpha-ketoglutarate449.0DLD, OGDH, DLST
23acetyl-coa44 249.9DLD, PDHA1
24lipoamide44 249.9DLD, PDHA1, OGDH
25Coenzyme A24 119.9PDHA1, OGDH, DLD
26carbon dioxide44 249.9DLD, PDHA1, OGDH
27nad28 249.8OGDH, DLD, PDHA1
28nadh44 24 1110.8OGDH, PDHA1, DLD
29lactate448.8PDHA1, OGDH, DLD
30chloramphenicol44 1 50 1111.7PDHA1, DLD
31oxygen44 249.6PDHA1, OGDH, DLD
32pyruvate448.4DLST, DLD, OGDH, PDHA1

GO Terms for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section

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

Sources for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet