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Table 1 Primary deficiencies in tricarboxylic acid cycle enzymes in humans.

From: Rapid determination of tricarboxylic acid cycle enzyme activities in biological samples

Enzyme1

Clinical presentation

References

Fumarase

1. Progressive encephalopathy

2. Hereditary leiomyomatosis and renal cell cancer

1. [19]

2. [27]

Malate dehydrogenase

No disease identified so far

 

Citrate synthase

No disease identified so far

 

Aconitase

No disease identified so far

 

Isocitrate dehydrogenase

Low-grade gliomas

[32]

α-ketoglutarate dehydrogenase

Congenital lactic acidosis

[28]

Succinyl CoA ligase

Encephalomyopathy with mtDNA depletion

[33]

Succinate dehydrogenase

1. Encephalopathy (Leigh syndrome)

2. Pheochromocytoma and paraganglioma

1. [20]

2. [34]

  1. 1 Only primary enzyme deficiencies caused by known gene mutations are indicated, excluding secondary deficiencies that may be from genetic (e.g., Friedreich's ataxia with aconitase and succinate dehydrogenase deficiencies) or non genetic origin.