Alpha-ketoglutarate Dehydrogenase Deficiency malady

MalaCards: Alpha-ketoglutarate Dehydrogenase Deficiency, also known as 2 alpha ketoglutarate dehydrogenase deficiency, is related to lactic acidosis and wernicke-korsakoff syndrome. An important gene associated with Alpha-ketoglutarate Dehydrogenase Deficiency is DLST (dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)), and among its related pathways are Lysine degradation and Glucose / Energy Metabolism. The compounds chloramphenicol and (S)-Succinyldihydrolipoamide have been mentioned in the context of this disorder.

OMIM: 203740

alpha-ketoglutarate dehydrogenase deficiency 7 30 33 43 2 alpha ketoglutarate dehydrogenase deficiency 30

alpha kgd deficiency 30 oxoglutaricaciduria 30

Diseases related to alpha-ketoglutarate dehydrogenase deficiency by text searches and GeneDecks gene sharing:

(show all 11)

id	Related Disease	Score	Top Affiliating Genes
1	lactic acidosis	29.7	PDHA1, DLD
2	wernicke-korsakoff syndrome	12.6	OGDH, DLST
3	parkinson's disease	12.4	DLST, OGDH
4	primary biliary cirrhosis	12.1	OGDH, DLD
5	leigh disease	12.1	PDHA1, DLD
6	protein s deficiency	11.9	DLD, PDHA1
7	maple syrup urine disease	11.9	DLD, OGDH, DLST
8	friedreich ataxia	11.9	DLD, DLST, OGDH
9	olivopontocerebellar atrophy	11.8	DLST, DLD, OGDH
10	ataxia	11.2	DLST, PDHA1, OGDH, DLD
11	malaria	10.7	OGDH, PDHA1, DLD, DLST

Clinical features from OMIM: 203740

Approved drugs:

Drug clinical trials:

Articles related to alpha-ketoglutarate dehydrogenase deficiency:

id	Title	Authors	Year	Affiliating Genes
1	A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. (15712224)	Odievre M.H.... Bonnefont J.P.	2005	PDHA1, DLD, DLST
2	Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. (1640293)	Bonnefont J.P.... Munnich A.	1992	OGDH

Genes related to alpha-ketoglutarate dehydrogenase deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	DLST	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	11.1	Publications
2	PDHA1	pyruvate dehydrogenase (lipoamide) alpha 1	11.1	Publications
3	DLD	dihydrolipoamide dehydrogenase	11.1	Publications
4	OGDH	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	11.1	Publications

Pathways related to alpha-ketoglutarate dehydrogenase deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Lysine degradation20	9.4	DLST, OGDH
2	Glucose / Energy Metabolism3	9.3	DLST, PDHA1
3	Regulation of pyruvate dehydrogenase (PDH) complex38	9.2	PDHA1, DLD
4	Metabolism of amino acids and derivatives38	9.1	DLST, OGDH
5	Pyruvate metabolism20	9.1	PDHA1, DLD
6	Glycolysis / Gluconeogenesis20	8.9	DLD, PDHA1
7	Citrate cycle (TCA cycle)20	8.2	DLD, DLST, PDHA1, OGDH
8	Metabolic pathways20	8.1	DLD, DLST, PDHA1, OGDH

Compounds related to alpha-ketoglutarate dehydrogenase deficiency according to GeneDecks:

(show all 23)

id	Compound	Score	Top Affiliating Genes
1	chloramphenicol32 9 9	11.9	PDHA1
2	(S)-Succinyldihydrolipoamide18	9.8	OGDH, DLST
3	thiamine pyrophosphate32 18	10.6	PDHA1, OGDH
4	thiamine32 9 18 9	12.6	PDHA1, OGDH
5	carnitine32	9.5	OGDH, PDHA1
6	2-oxo acid32	9.4	DLD, OGDH
7	citrate32	9.4	PDHA1, OGDH
8	alpha lipoic acid32	9.3	DLD, OGDH
9	peroxynitrite32	9.3	DLD, OGDH
10	Pyruvic acid9 18 9	11.3	PDHA1, DLD
11	nad+32	9.2	DLD, OGDH
12	carbon32	9.0	DLD, OGDH
13	glutaryl-coa32 18	10.0	DLD, DLST, OGDH
14	dihydrolipoamide32 18	10.0	OGDH, DLST, DLD
15	alpha-ketoglutarate32	8.9	DLD, DLST, OGDH
16	lipoamide32 18	9.9	DLD, PDHA1, OGDH
17	Coenzyme A9 18 9	10.8	DLD, PDHA1, OGDH
18	carbon dioxide32 18	9.8	OGDH, PDHA1, DLD
19	nadh32 9 18 9	11.8	OGDH, PDHA1, DLD
20	lactate32	8.7	DLD, PDHA1, OGDH
21	acetyl-coa32 18	9.7	DLD, PDHA1
22	oxygen32 18	9.5	OGDH, PDHA1, DLD
23	pyruvate32	8.3	DLD, DLST, PDHA1, OGDH

Cellular components related to alpha-ketoglutarate dehydrogenase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	oxoglutarate dehydrogenase complex	GO:045252	8.8	DLST, DLD
2	mitochondrion	GO:005739	8.0	DLD, DLST, PDHA1, OGDH
3	mitochondrial matrix	GO:005759	7.9	DLD, DLST, PDHA1, OGDH

Biological processes related to alpha-ketoglutarate dehydrogenase deficiency according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	generation of precursor metabolites and energy	GO:006091	9.4	DLST, OGDH
2	regulation of acetyl-CoA biosynthetic process from pyruvate	GO:010510	9.1	DLD, PDHA1
3	pyruvate metabolic process	GO:006090	9.0	DLD, PDHA1
4	glycolysis	GO:006096	9.0	PDHA1, OGDH
5	lysine catabolic process	GO:006554	8.8	DLD, DLST, OGDH
6	tricarboxylic acid cycle	GO:006099	8.8	DLD, DLST, OGDH
7	cellular nitrogen compound metabolic process	GO:034641	8.7	OGDH, DLST, DLD
8	small molecule metabolic process	GO:044281	7.9	OGDH, PDHA1, DLST, DLD