KEGG   DISEASE: Alpha-ketoglutarate dehydrogenase complex deficiency
Entry
H02006                      Disease                                

Name
Alpha-ketoglutarate dehydrogenase complex deficiency
  Subgroup
Dihydrolipoamide dehydrogenase deficiency [DS:H02000]
  Supergrp
Diseases of the tricarboxylic acid cycle [DS:H01022]
Mitochondrial disease [DS:H01427]
Description
The alpha-ketoglutarate dehydrogenase complex (KGDHC) deficiency is a rare autosomal recessive disorder, most often presenting with severe encephalopathy and hyperlactatemia with neonatal onset. KGDHC is mitochondrial enzyme complex, and functions in the TCA cycle. This enzymatic complex is made up of three subunits, encoded by OGDH, DLST, and DLD, respectively. The E3 subunit, encoded by DLD, is common to two other enzymatic complexes, namely pyruvate dehydrogenase complex and branched-chain ketoacid dehydrogenase complex. It has also been reported that reductions in the KGDHC occur in a number of neurodegenerative disorders including Alzheimer's disease.
Category
Inherited metabolic disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H02006  Alpha-ketoglutarate dehydrogenase complex deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H02006  Alpha-ketoglutarate dehydrogenase complex deficiency
Pathway
hsa00020  Citrate cycle (TCA cycle)
Gene
OGDH [HSA:4967] [KO:K00164]
DLD [HSA:1738] [KO:K00382]
Other DBs
ICD-11: 5C53.1
ICD-10: E88.4
MeSH: C536582
OMIM: 203740 246900
Reference
  Authors
Odievre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rotig A, Rustin P, Bonnefont JP
  Title
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
  Journal
Hum Mutat 25:323-4 (2005)
DOI:10.1002/humu.9319
Reference
  Authors
Gibson GE, Park LC, Sheu KF, Blass JP, Calingasan NY
  Title
The alpha-ketoglutarate dehydrogenase complex in neurodegeneration.
  Journal
Neurochem Int 36:97-112 (2000)
DOI:10.1016/S0197-0186(99)00114-X
Reference
PMID:8295396
  Authors
Guffon N, Lopez-Mediavilla C, Dumoulin R, Mousson B, Godinot C, Carrier H, Collombet JM, Divry P, Mathieu M, Guibaud P
  Title
2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case.
  Journal
J Inherit Metab Dis 16:821-30 (1993)
DOI:10.1007/BF00714273
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