Inborn errors of carbohydrate metabolism

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Inborn errors of carbohydrate metabolism Classification and external resources
ICD-10	E73.-E74.
ICD-9	271
MeSH	D002239

Inborn errors of carbohydrate metabolism are metabolic disorders which affect the catabolism and anabolism of carbohydrates.

An example is lactose intolerance.

v • d • e Inborn error of carbohydrate metabolism (including glycogen storage diseases) (E73-74, 271) Disaccharide catabolism Lactose intolerance - Sucrose intolerance Monosaccharide catabolism fructose: Essential fructosuria - Fructose intolerance galactose/galactosemia : Galactokinase deficiency - Galactose-1-phosphate uridylyltransferase galactosemia - Galactose epimerase deficiency Monosaccharide transport Glucose-galactose malabsorption - Inborn errors of renal tubular transport (Renal glycosuria) Glycolysis GSD type VII, Tarui's, phosphofructokinase - Triosephosphate isomerase deficiency - Pyruvate kinase deficiency Pyruvate catabolism PDHA - Fumarase deficiency Gluconeogenesis PCD - Fructose bisphosphatase deficiency - GSD type I, von Gierke, glucose 6-phosphatase Glycogenesis GSD type 0, glycogen synthase - GSD type IV, Andersen's, branching Glycogenolysis GSD type II, Pompe's, glucosidase - GSD type III, Cori's, debranching - GSD type V, McArdle, glycogen phosphorylase/GSD type VI, Hers', glycogen phosphorylase - GSD type I, von Gierke, glucose 6-phosphatas Pentose phosphate pathway Glucose-6-phosphate dehydrogenase deficiency - Pentosuria Other Hyperoxaluria see also glycolysis enzymes, pentose phosphate pathway enzymes, fructose and galactose metabolism enzymes

v • d • e Inborn error of carbohydrate metabolism - Lysosomal storage diseases - glycosaminoglycan metabolic pathology (E76, 277.5) Mucopolysaccharidosis (Glycosaminoglycans) 1:Hurler/Scheie - 2:Hunter - 3:Sanfilippo ABCD - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly

v • d • e Inborn error of carbohydrate metabolism - Lysosomal storage diseases: glycoprotein metabolic pathology - Glycoproteinosis, including mucolipidosis (E77, 272.7) Post-translational modification of lysosomal enzymes I-cell disease/II - Pseudo-Hurler polydystrophy/III Glycoprotein degradation Aspartylglucosaminuria - Fucosidosis - mannosidosis (Alpha-mannosidosis, Beta-mannosidosis) - Sialidosis/I Other Mucolipidosis type IV - Salla disease - Galactosialidosis see also enzymes