1.08.b
Disorders of lipoic acid and iron-sulfur metabolism
- Lipoyltransferase 2 deficiency (Neonatal severe encephalopathy with lactic acidosis and brain abnormalities – NELABA)
- Lipoic acid synthase deficiency (Hyperglycinemia, lactic acidosis, and seizures)
- Lipoyltransferase 1 deficiency
- NFU1 deficiency (Multiple mitochondrial dysfunctions syndrome type 1)
- BOLA3 deficiency (Multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia)
- Glutaredoxin 5 deficiency
- IBA57 deficiency
- ISCA1 deficiency (Multiple mitochondrial dysfunctions syndrome type 5)
- ISCA2 deficiency (Multiple mitochondrial dysfunctions syndrome type 4)
- ISCU deficiency (Hereditary myopathy with lactic acidosis, Swedish type myopathy with exercise intolerance)
- ABCB7 deficiency (Sideroblastic anemia and spinocerebellar ataxia)
- Ferredoxin reductase deficiency (Auditory neuropathy and optic atrophy)
- Ferredoxin 2 deficiency
- ISD11 deficiency (Combined oxidative phosphorylation deficiency 19)
- NFS1 deficiency (Infantile mitochondrial complex II/III deficiency – IMC23D)
- Frataxin deficiency (Friedreich ataxia)
