OnlineIMD
Dihydrolipoamide acetyltransferase deficiency
(E2 deficiency)
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
DLAT
/ Dihydrolipoamide S-acetyltransferase
11q23.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Dihydrolipoamide S-acetyltransferase
Multimer
Pyruvate dehydrogenase complex
Pathway
Pyruvate metabolism and Krebs cycle
Disease group(s)
5.1 Disorders of pyruvate metabolism