1.10.b
Disorders of mitochondrial aminoacyl-tRNA synthetases
- Mitochondrial alanyl-tRNA synthetase deficiency (Combined oxidative phosphorylation deficiency type 8; progressive leukoencephalopathy with ovarian failure)
- Mitochondrial arginyl-tRNA synthetase deficiency (Pontocerebellar hypoplasia type 6)
- Mitochondrial asparaginyl-tRNA synthetase deficiency (Combined oxidative phosphorylation deficiency type 24)
- Mitochondrial aspartyl-tRNA synthetase deficiency (Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation)
- Mitochondrial cysteinyl-tRNA synthetase deficiency (Combined oxidative phosphorylation deficiency type 27)
- Mitochondrial glutamyl-tRNA synthetase deficiency (Combined oxidative phosphorylation deficiency type 12)
- Mitochondrial histidyl-tRNA synthetase deficiency (Perrault syndrome type 2)
- Mitochondrial isoleucyl-tRNA synthetase deficiency (Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia – CAGSSS)
- Mitochondrial leucyl-tRNA synthetase deficiency (Perrault syndrome type 4)
- Mitochondrial methionyl-tRNA synthetase deficiency (Autosomal recessive spastic ataxia type 3)
- Mitochondrial phenylalanyl-tRNA synthetase deficiency (Combined oxidative phosphorylation deficiency type 14)
- Mitochondrial prolyl-tRNA synthetase deficiency
- Mitochondrial seryl-tRNA synthetase deficiency (Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis – HUPRA)
- Mitochondrial threonyl-tRNA synthetase deficiency (Combined oxidative phosphorylation deficiency type 21)
- Mitochondrial tyrosyl-tRNA synthetase deficiency (Myopathy, lactic acidosis, and sideroblastic anemia type 2)
- Mitochondrial valyl-tRNA synthetase deficiency (Combined oxidative phosphorylation deficiency type 2)
- Mitochondrial tryptophanyl-tRNA synthetase deficiency (Mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures)
- Mitochondrial and cytoplasmic glycyl-tRNA synthetase deficiency (Charcot-Marie-Tooth disease type 2D; distal hereditary motor neuropathy type 5A; infantile spinal muscular atrophy, James type)
- Mitochondrial and cytoplasmic lysyl-tRNA synthetase deficiency (Recessive intermediate Charcot-Marie-Tooth type B; autosomal recessive deafness type 89)
- Mitochondrial glutamyl-tRNA(Gln) amidotransferase subunit A deficiency
- Mitochondrial glutamyl-tRNA(Gln) amidotransferase subunit B deficiency
- Mitochondrial glutamyl-tRNA(Gln) amidotransferase subunit C deficiency
