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Disease	2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY
Synonym	ALPHA-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY ; ACIDEMIA, 2-OXOGLUTARIC
OMIM	203740 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	2-ketoglutarate dehydrogenase complex, E1, E2 Detailed enzyme information on www.expacy.ch
Gene locus	7p14-p13 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Oxoglutarate dehydrogenase, lipoamide (alpha-ketoglutarate dehydrogenase)
genetests.org	search search on genetest.org by MIM 203740
Summary	very rare (7 cases) autosomal recessive 2-oxoglutaric acidemia is found in many organic acidopathies, excretion of 2-oxoglutaric acid in neonates and young infants (immaturity of hepatic enzymes, urinary tract infections)
Clinical symptoms	ataxia behavior, abnormal or bizarre, confusion cardiomyopathy cerebellar atrophy or hypoplasia chorea or athetosis encephalopathy hypoglycemia hypotonia lactic acidosis liver involvement (acute, chronic, hepatitis) motor retardation onset, child onset, infant opisthotonus Organic acids, urine progressive neurologic defect seizures sudden death tremor or twitching
Abnormal Findings in blood	Glucose Normal: 3.30-5.50 mmol/l \| Significant : - normal/decreased Lactate Normal: 0.90-1.80 mmol/l \| Significant : - increased
Abnormal Findings in urine	2-Oxoglutaric acid Normal: 50.00-152.00 mmol/mol creatinine \| Significant : 150.00-1600.00 mmol/mol creatinine Citrate Normal: 90.00-590.00 µmol/l \| Significant : - normal/increased Fumaric acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : - increased Malic acid Normal: 0.00-21.00 µmol/l \| Significant : - normal/increased Succinate Normal: 5.30-46.30 mmol/mol creatinine \| Significant : - normal/increased
Treatment	low-carbohydrate diet sodium bicarbonate
Literature	There are 9 publications available. Click here to open the relevant 2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY publ