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Diseases
INTERMEDIARY METABOLISM: NUTRIENTS
3 Disorders of carbohydrate metabolism
3.6 Disorders of carbohydrate transmembrane transport and absorption
Glucose transporter 1 deficiency
Neuronal glucose transporter deficiency
Fanconi-Bickel syndrome
Glucose-galactose malabsorption
Familial renal glucosuria
Congenital sucrase-isomaltase deficiency
Trehalase deficiency
Congenital lactose intolerance
Sialin deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
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Home
Diseases
INTERMEDIARY METABOLISM: NUTRIENTS
3 Disorders of carbohydrate metabolism
3.6 Disorders of carbohydrate transmembrane transport and absorption
Glucose transporter 1 deficiency
Neuronal glucose transporter deficiency
Fanconi-Bickel syndrome
Glucose-galactose malabsorption
Familial renal glucosuria
Congenital sucrase-isomaltase deficiency
Trehalase deficiency
Congenital lactose intolerance
Sialin deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
Neuronal glucose transporter deficiency
Synonym(s)
Intellectual developmental disorder with neuropsychiatric features
Type
Disease
External link(s)
IEMbase
Gene
SLC45A1
/ solute carrier family 45 member 1
1p36.23
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Solute carrier family 45 member 1
Disease group(s)
3.6 Disorders of carbohydrate transmembrane transport and absorption