OnlineIMD

Lipoyltransferase 1 deficiency

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • LIPT1 / Lipoyl Protein Ligase 1
      • 2q11.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Lipoyl protein ligase 1
  • Disease group(s)
    • 8.2        Disorders of lipoic acid and iron-sulfur metabolism