Specific

6-phosphogluconate dehydrogenase deficiency aspartylglucosaminuria congenital disorder of glycosylation congenital glucose/galactose malabsorption congenital lactase deficiency; hereditary alactasia; disaccharide intolerance 2 essential fructosuria fructose-1,6-diphosphatase deficiency fumarase deficiency (fumaric aciduria) galactose intolerance galactosemia GLUT1 deficiency syndrome glycerol kinase deficiency (GK deficiency) glycogen storage disease (glycogenosis) glycosylphosphatidylinositol deficiency hawkinsinuria hereditary fructose intolerance hereditary leiomyomatosis & renal cell cancer (HLRCC) hexokinase deficiency MASP2 deficiency mucopolysaccharidosis (MPS) multiple cutaneous & uterine leiomyomata (MCUL1) Naga deficiency (Schindler disease, Kanzaki disease) pentosuria phosphoglycerate dehydrogenase deficiency phosphoribosyl pyrophosphate synthetase deficiency phosphoserine phosphatase deficiency pyruvate carboxylase deficiency pyruvate kinase deficiency ribose-5-phosphate isomerase deficiency triosephosphate isomerase deficiency (TPI deficiency)

General

carbohydrate disorder inborn error of metabolism