KEGG   DISEASE: Diseases of the tricarboxylic acid cycleHelp
H01022                      Disease                                

Diseases of the tricarboxylic acid cycle
Fumarase (FH) deficiency [DS:H02004]
Succinate dehydrogenase (SDH) deficiency [DS:H02005]
Alpha-ketoglutarate dehydrogenase (AKGDH) deficiency [DS:H02006]
Mitochondrial disease [DS:H01427]
Diseases of the tricarboxylic acid cycle (TCA cycle) constitute a group of rare human diseases that affect core mitochondrial metabolism. The Fumarase deficiency is caused by impairment of the fumarate hydratase enzyme. The symptoms of the disorder include developmental delay, severe mental retardation, language impairment, seizures and dysmorphic facial features. The succinate dehydrogenase deficiency affects mitochondrial complex II, which links the TCA cycle with the electron transport chain. The phenotype is highly variable and can include Leigh syndrome, leukodystrophy, cardiomyopathy and mental and motor skill deterioration. The alpha-ketoglutarate dehydrogenase deficiency is extremely rare and characterised by encephalopathy and hyperlactatemia resulting in death in early childhood.
Metabolic disease
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H01022  Diseases of the tricarboxylic acid cycle
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
     H01022  Diseases of the tricarboxylic acid cycle
BRITE hierarchy
hsa00020  Citrate cycle (TCA cycle)
(FH) FH [HSA:2271] [KO:K01679]
(SDH) SDHA [HSA:6389] [KO:K00234]
(AKGDH) OGDH [HSA:4967] [KO:K00164]
Succinate dehydrogenase deficiency is also included in mitochondrial respiratory chain deficiencies. [DS:H00473]
Other DBs
ICD-11: 5C53.1
ICD-10: E88.8
MeSH: C538191 C565375 C536582
OMIM: 606812 252011 203740
Smith AC, Robinson AJ
A metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle.
BMC Syst Biol 5:102 (2011)
Rustin P, Bourgeron T, Parfait B, Chretien D, Munnich A, Rotig A
Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.
Biochim Biophys Acta 1361:185-97 (1997)
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