Details of Disease | DrugMAP

General Information of Disease (ID: DISSCY93)

Disease Name	Oxoglutaricaciduria
Synonyms	Alpha-Kgd deficiency; 2-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria; Alpha KGD deficiency; ALPHA-ketoglutarate dehydrogenase deficiency; 2 alpha ketoglutarate dehydrogenase deficiency; Alpha-ketoglutarate dehydrogenase deficiency; oxoglutarate dehydrogenase deficiency
Definition	Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.
Disease Hierarchy	DISP5E0H: Inborn mitochondrial metabolism disorder DISOEVKS: Metabolic epilepsy DISSYRHC: Hereditary peripheral neuropathy DISB4I0S: Tricarboxylic acid cycle disorder DISSCY93: Oxoglutaricaciduria
Disease Identifiers	MONDO ID MONDO_0008759 MESH ID C536582 UMLS CUI C2752074 OMIM ID 203740 MedGen ID 414553 Orphanet ID 31 SNOMED CT ID 733630004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
OGDH	TTH8T6I	Limited	Biomarker	[1]
OGDH	TTH8T6I	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OGDH	OTHGTQWF	Strong	Autosomal recessive	[2]
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References

1	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2	2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria. Neuropediatrics. 2000 Feb;31(1):35-8. doi: 10.1055/s-2000-15295.