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Summary
2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY
ALPHA-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY ACIDEMIA, 2-OXOGLUTARIC
203740
OMIM = Online Medalian Inheritance of Men
31
7p13

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • low-carbohydrate diet
  • sodium bicarbonate
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)
symptoms
ataxia
behavior, abnormal or bizarre, confusion
cardiomyopathy
cerebellar atrophy or hypoplasia
chorea or athetosis
encephalopathy
failure to thrive
hearing defect, deafness
hypoglycemia
hypotonia
lactic acidosis
liver involvement or dysfunction
metabolic acidosis
motor retardation
onset, childhood
onset, infancy
opisthotonus
Organic acids, urine
osteodystrophy
progressive neurologic defect
psychomotor retardation
pyramidal signs
seizures
sudden death
tremor or twitching
laboratory finding
Citric acid0.000.0090.00590.00normal/increasedurinenewborn
Thiamine pyrophosphate150.001600.0050.00152.00mmol/mol creatinineurine
Fumaric acid0.000.000.201.70increasedurineadult
Succinic acid 5.3046.30normal/increasedurine
Malic acid 0.0021.00normal/increasedurine
D-Glucose 3.305.50normal/decreasedblood
L-Lactic acid 0.901.80increasedblood
Sedoheptulose-7-phosphate increasedurine
Literature
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Gahl WASchneider JA, Aula PPLysosomal transport disorders: cystinosis and sialic acid storage diseaseThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.303763-37971995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Donohoue Pet al.Congenital adrenal hyperplasiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202929-29661995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Imamura Iet al.Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N-methylhistamine, imidazole acetic acid and its conjugate(s)J Biochem9601925-1984
Shoji Yet al.3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic diseaseJ Inherit Metab Dis2201-81999
Tada Het al.Reversible white matter lesion in methionine adenosyltransferase I/III deficiencyAJNR Am J Neuroradiol25101843-18452004
Oka JThe second half of de novo synthetic pathway of IMP and conversion of IMP to AMPNippon Rinsho61152-582003