RARS1 related hypomyelinating leukodystrophy (HLD9)
Hypomyelinating leukodystrophy
Pediatric diseases
General description
RARS1 related hypomyelinating leukodystrophy, also known as hypomyelinating leukodystrophy 9 (HLD9), is an autosomal recessive genetic disorder that manifests in infancy with symptoms such as delayed motor development, intellectual disability, spasticity, dystonia, and nystagmus.
The RARS1 gene encodes cytoplasmic arginyl-tRNA synthetase, a crucial component of the aminoacyl-tRNA synthetase system. This enzyme plays an essential role in protein synthesis by attaching each amino acid to its corresponding tRNA.