Inborn carbohydrate metabolic disorder

Part of

Sub-types of Inborn carbohydrate metabolic disorder

• Disorder of carbohydrate transmembrane transport and absorption 0 trials · 162 incl. sub-types
  14 sub-types

  • Glucose transport disorder 1 trial · 156 incl. sub-types Sub-types →
  • Salla disease 2 trials
  • Congenital sucrase-isomaltase deficiency 2 trials Sub-types →
  • Congenital lactase deficiency 1 trial
  • Exercise-induced hyperinsulinism 1 trial
  • Autosomal recessive non-syndromic intellectual disability 0 trials Sub-types →
  • Childhood onset GLUT1 deficiency syndrome 2 0 trials
  • Chronic diarrhea due to glucoamylase deficiency 0 trials
  • Diarrhea-vomiting due to trehalase deficiency 0 trials
  • Dystonia 9 0 trials
  • Free sialic acid storage disease, infantile form 0 trials
  • Hereditary cryohydrocytosis with reduced stomatin 0 trials
  • Intermediate severe Salla disease 0 trials
  • Juvenile cataract-microcornea-renal glucosuria syndrome 0 trials
• Disorder of glycogen metabolism 15 trials · 69 incl. sub-types
  24 sub-types

  • Glycogen storage disease II 31 trials · 41 incl. sub-types Sub-types →
  • Glycogen storage disease I 10 trials · 13 incl. sub-types Sub-types →
  • Danon disease 5 trials
  • Glycogen storage disease IX 2 trials · 3 incl. sub-types Sub-types →
  • Glycogen storage disease III 2 trials
  • Glycogen storage disease V 2 trials
  • Glycogen storage disease VI 2 trials
  • Glycogen storage disease due to glycogen branching enzyme deficiency 2 trials Sub-types →
  • Glycogen storage disease due to liver phosphorylase kinase deficiency 0 trials · 2 incl. sub-types Sub-types →
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency 2 trials
  • GYG1-related disorder of glycogen metabolism 0 trials · 1 incl. sub-types Sub-types →
  • Lafora disease 1 trial Sub-types →
  • Glycogen storage disease VII 1 trial
  • Glycogen storage disease due to GLUT2 deficiency 1 trial
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 1 trial
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency 1 trial
  • Glycogen storage disease due to muscle beta-enolase deficiency 1 trial
  • Glycogen storage disease due to phosphoglycerate mutase deficiency 1 trial
  • Polyglucosan body myopathy 1 with or without immunodeficiency 1 trial
  • Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 0 trials
  • Glycogen storage disease IXd 0 trials
  • Glycogen storage disease due to lactate dehydrogenase deficiency 0 trials Sub-types →
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 trials
  • Lethal congenital glycogen storage disease of heart 0 trials
• Mucopolysaccharidosis 14 trials · 62 incl. sub-types
  8 sub-types

  • Mucopolysaccharidosis type 2 25 trials Sub-types →
  • Mucopolysaccharidosis type 3 7 trials · 18 incl. sub-types Sub-types →
  • Mucopolysaccharidosis type 1 11 trials · 16 incl. sub-types Sub-types →
  • Mucopolysaccharidosis type 4 2 trials · 10 incl. sub-types Sub-types →
  • Mucopolysaccharidosis type 6 8 trials Sub-types →
  • Mucopolysaccharidosis type 7 8 trials
  • Mucopolysaccharidosis type 9 1 trial
  • Mucopolysaccharidosis, type 10 0 trials
• Disorder of glycolysis 1 trial · 27 incl. sub-types
  16 sub-types

  • Maturity-onset diabetes of the young 8 trials · 13 incl. sub-types Sub-types →
  • Pyruvate kinase deficiency of red cells 10 trials
  • Permanent neonatal diabetes mellitus 2 trials Sub-types →
  • Glycogen storage disease VII 1 trial
  • Glycogen storage disease due to aldolase A deficiency 1 trial
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 1 trial
  • Glycogen storage disease due to muscle beta-enolase deficiency 1 trial
  • Glycogen storage disease due to phosphoglycerate mutase deficiency 1 trial
  • Charcot-Marie-Tooth disease type 4G 0 trials
  • Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 0 trials
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 trials
  • Hemolytic anemia due to glucophosphate isomerase deficiency 0 trials
  • Hyperinsulinemic hypoglycemia, familial, 3 0 trials
  • Lactic aciduria due to D-lactic acid 0 trials
  • Non-spherocytic hemolytic anemia due to hexokinase deficiency 0 trials
  • Triosephosphate isomerase deficiency 0 trials
• Primary hyperoxaluria 13 trials · 17 incl. sub-types
  3 sub-types

  • Primary hyperoxaluria type 1 10 trials
  • Primary hyperoxaluria type 2 4 trials
  • Primary hyperoxaluria type 3 2 trials
• Hyperinsulinemic hypoglycemia 2 trials · 14 incl. sub-types
  5 sub-types

  • Familial hyperinsulinism 9 trials · 12 incl. sub-types Sub-types →
  • Hyperinsulinemic hypoglycemia, familial, 1 1 trial Sub-types →
  • Hyperinsulinemic hypoglycemia with polycystic kidney disease 0 trials
  • Hyperinsulinemic hypoglycemia, familial, 8 0 trials
  • Insulin autoimmune syndrome 0 trials
• Oligosaccharidosis 0 trials · 11 incl. sub-types
  7 sub-types

  • Alpha-mannosidosis 5 trials Sub-types →
  • Aspartylglucosaminuria 4 trials
  • Fucosidosis 2 trials
  • Galactosialidosis 2 trials
  • Sialidosis 1 trial · 2 incl. sub-types Sub-types →
  • Alpha-N-acetylgalactosaminidase deficiency 0 trials Sub-types →
  • Beta-mannosidosis 0 trials
• Lactose intolerance 9 trials · 10 incl. sub-types
  1 sub-type

  • Lactose intolerance adult type 2 trials
• G6PD deficiency 6 trials
  3 sub-types

  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 trial
  • Class V glucose-6-phosphate dehydrogenase deficiency 0 trials
  • Favism 0 trials
• GLUT1 deficiency syndrome 4 trials · 5 incl. sub-types
  2 sub-types

  • Encephalopathy due to GLUT1 deficiency 5 trials
  • Childhood onset GLUT1 deficiency syndrome 2 0 trials
• Disorder of galactose metabolism 0 trials · 5 incl. sub-types
  1 sub-type

  • Galactosemia 5 trials Sub-types →
• Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types
  7 sub-types

  • Pyruvate dehydrogenase E1-alpha deficiency 2 trials
  • Pyruvate dehydrogenase E3 deficiency 1 trial
  • Lipoic acid synthetase deficiency 0 trials
  • Pyruvate dehydrogenase E1-beta deficiency 0 trials
  • Pyruvate dehydrogenase E2 deficiency 0 trials
  • Pyruvate dehydrogenase E3-binding protein deficiency 0 trials
  • Pyruvate dehydrogenase phosphatase deficiency 0 trials
• Disorder of galactose and fructose metabolism 0 trials · 4 incl. sub-types
  8 sub-types

  • Classic galactosemia 3 trials
  • Galactokinase deficiency 1 trial
  • Hereditary fructose intolerance 1 trial
  • D-glyceric aciduria 0 trials
  • Erythrocyte galactose epimerase deficiency 0 trials
  • Essential fructosuria 0 trials
  • Galactosemia 4 0 trials
  • Generalized galactose epimerase deficiency 0 trials
• Multiple carboxylase deficiency 0 trials · 3 incl. sub-types
  2 sub-types

  • Biotinidase deficiency 3 trials
  • Holocarboxylase synthetase deficiency 1 trial
• Congenital disorder of deglycosylation 1 2 trials
• Disorder of fructose metabolism 0 trials · 1 incl. sub-types
  3 sub-types

  • Hereditary fructose intolerance 1 trial
  • Acquired fructose intolerance 0 trials
  • Essential fructosuria 0 trials
• Disorder of gluconeogenesis 0 trials · 1 incl. sub-types
  7 sub-types

  • Fructose-1,6-bisphosphatase deficiency 1 trial
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 1 trial
  • Glycerol kinase deficiency, adult form 0 trials
  • Glycerol kinase deficiency, infantile form 0 trials
  • Glycerol kinase deficiency, juvenile form 0 trials
  • Phosphoenolpyruvate carboxykinase deficiency 0 trials Sub-types →
  • Pyruvate carboxylase deficiency disease 0 trials Sub-types →
• Disorders of pentose/polyol metabolism 0 trials · 1 incl. sub-types
  1 sub-type

  • Inborn disorder of pentose phosphate metabolism 0 trials · 1 incl. sub-types Sub-types →