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