Epsilon-N-trimethyllysine hydroxylase deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- TMLHE / Trimethyllysine Hydroxylase And Epsilon
  Xq22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Trimethyllysine hydroxylase, epsilon
Disease group(s)
- 4.1 Disorders of carnitine metabolism