Aspartate N-acetyltransferase deficiency

Synonym(s)
- Hypoacetylaspartia,
- N-acetylaspartate deficiency
Type

Disease
External link(s)
- IEMbase
Gene
- NAT8L / N-acetyltransferase 8-like
  4p16.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- N-acetyltransferase 8-like
Pathway
- Glutamate/glutamine and aspartate/asparagine metabolism
Disease group(s)
- 1.9 Disorders of glutamate/glutamine and aspartate/asparagine metabolism