1.5.b
Disorders of the Krebs cycle
- Mitochondrial aconitase deficiency (Infantile cerebellar-retinal degeneration)
- Cytosolic NADP+-dependent isocitrate dehydrogenase 1 superactivity (Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; Ollier disease and Mafucci syndrome)
- Mitochondrial NADP+-dependent isocitrate dehydrogenase 2 superactivity (D-2-hydroxyglutaric aciduria type 2, dominant; Ollier disease and Maffuci syndrome, somatic)
- Mitochondrial NAD+-dependent isocitrate dehydrogenase 3 subunit alpha deficiency
- Mitochondrial NAD+-dependent isocitrate dehydrogenase 3 subunit beta deficiency
- Dihydrolipoamide succinyltransferase deficiency
- Alpha-ketoglutarate dehydrogenase deficiency (Oxoglutaric aciduria)
- ATP-specific succinyl-CoA synthetase subunit beta deficiency (Mitochondrial DNA depletion syndrome type 5)
- GTP-specific succinyl-CoA synthetase subunit alpha deficiency (Mitochondrial DNA depletion syndrome type 9)
- Fumarate hydratase deficiency (Fumarase deficiency; fumaric aciduria)
- Fumarate hydratase deficiency, tumoral phenotype (Hereditary leiomyomatosis and renal cell cancer; Reed syndrome)
- Mitochondrial malate dehydrogenase deficiency (Early infantile epileptic encephalopathy type 51)
- Mitochondrial malate dehydrogenase deficiency, tumoral phenotype
- Plasma membrane citrate transporter deficiency (Early infantile epileptic encephalopathy type 25)
- Sodium dicarboxylate cotransporter 3 deficiency
