KEGG   DISEASE: H01022Help
H01022                      Disease                                

Diseases of the tricarboxylic acid cycle, including:
Fumarase (FH) deficiency;
Succinate dehydrogenase (SDH) deficiency;
Alpha-ketoglutarate dehydrogenase (AKGDH) deficiency
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
BRITE hierarchy
Citrate cycle (TCA cycle)
(FH) FH [HSA:2271] [KO:K01679]
(SDH) SDHA [HSA:6389] [KO:K00234]
(AKGDH) OGDH [HSA:4967] [KO:K00164]
(FH) Fumarate [CPD:C00122] , 2-Oxoglutarate [CPD:C00026] (urine) Lactate [CPD:C00186] (cerebrospinal fluid)
(SDH) Lactate (blood plasma) 2-Oxoglutarate and Succinate [CPD:C00042] (urine in some cases) Succinate accumulation (brain)
(AKGDH) Oxoglutarate [CPD:C00026] Lactate
Succinate dehydrogenase deficiency is also included in mitochondrial respiratory chain deficiencies. [DS:H00473]
Other DBs
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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