OnlineIMD
Dicarboxylic aminoaciduria
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
SLC1A1
/ Solute Carrier Family 1 Member 1
9p24.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Glutamate transporter
Disease group(s)
1.11 Disorders of amino acid transport
Child entries
Hot water reflex epilepsy