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] |