MCID: ALP011
MIFTS: 41

Alpha-Ketoglutarate Dehydrogenase Deficiency malady

Rare diseases, Neuronal diseases, Metabolic diseases categories
Download this MalaCard

Summaries for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section


Fully expand this MalaCard
MalaCards based summary: Alpha-Ketoglutarate Dehydrogenase Deficiency, also known as 2 alpha ketoglutarate dehydrogenase deficiency, is related to lactic acidosis and leigh disease, and has symptoms including ataxia/incoordination/trouble of the equilibrium, 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 S-Glutaryldihydrolipoamide have been mentioned in the context of this disorder. Affiliated tissues include salivary gland.

Description from OMIM:46 203740

Aliases & Classifications for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Alpha-Ketoglutarate Dehydrogenase Deficiency, Aliases & Descriptions:

Name: Alpha-Ketoglutarate Dehydrogenase Deficiency 42 22 46 48 62
2 Alpha Ketoglutarate Dehydrogenase Deficiency 42 62
Oxoglutaricaciduria 42 48
 
Alpha Kgd Deficiency 42
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):

48
alpha-ketoglutarate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

OMIM46 203740
MESH via Orphanet35 C536582
ICD10 via Orphanet26 E88.8
UMLS via Orphanet63 C2752074

Related Diseases for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis30.6DLD, PDHA1
2leigh disease10.2PDHA1
3wernicke-korsakoff syndrome10.2OGDH
4metabolic acidosis9.9DLD, OGDH
5parkinson's disease9.8OGDH, DLST
6primary biliary cirrhosis9.8OGDH, DLD
7alzheimer's disease9.6OGDH, 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

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:

32
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
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

About this section

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
glycolysis37
gluconeogenesis37
Glycolysis and Gluconeogenesis37
9.0DLD, PDHA1
4
Show member pathways
methylglyoxal degradation VI37
methylglyoxal degradation I37
9.0PDHA1, DLD
5
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
8.6DLD, DLST, OGDH
6
Show member pathways
8.0OGDH, DLST, DLD, PDHA1
7
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.0PDHA1, DLD, DLST, OGDH
8
Show member pathways
8.0OGDH, DLST, DLD, PDHA1
9
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
8.0OGDH, DLST, DLD, PDHA1

Compounds for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
24HMDB, 44Novoseek, 2BitterDB, 11DrugBank, 28IUPHAR, 50PharmGKB
See all sources

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

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet