1.3.f

Disorders of carbohydrate transmembrane transport and absorption

  • GLUT1 deficiency (GLUT1 deficiency)
  • Neuronal glucose transporter deficiency (Intellectual developmental disorder with neuropsychiatric features)
  • Glucose transporter 2 deficiency (Fanconi-Bickel syndrome)
  • Intestinal sodium-glucose cotransporter 1 deficiency (Glucose-galactose malabsorption)
  • Sodium-glucose cotransporter 2 deficiency (Familial renal glucosuria type 1)
  • MAP17 deficiency (Familial renal glucosuria type 2)
  • Congenital sucrase-isomaltase deficiency
  • Trehalase deficiency
  • Congenital lactase deficiency (Congenital alactasia)
  • Sialin deficiency (Infantile sialic acid storage disease, severe; Salla disease, milder)

Subnetworks

cfao 1

C-FAO

Carbohydrate, fatty acid oxidation and ketone bodies disorders

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