carbohydrate inborn error of metabolism
Jump to navigation
Jump to search
More general terms
More specific terms
- 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)