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Carbohydrate Metabolism, Inborn Errors

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Definition:   do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; coord IM with specific carbohydrate /metab (IM); FRUCTOSE METABOLISM, INBORN ERRORS & PYRUVATE METABOLISM, INBORN ERRORS are also available; DF: CARB METAB INBORN ERR   
Examples Congenital Disorders of Glycosylation; Fructose Metabolism, Inborn Errors; Fucosidosis; Galactosemias; Glucosephosphate Dehydrogenase Deficiency; Glycogen Storage Disease; Hyperoxaluria, Primary; Lactose Intolerance; Mannosidase Deficiency Diseases; Mucolipidoses; Mucopolysaccharidoses; Multiple Carboxylase Deficiency; Pyruvate Metabolism, Inborn Errors 		Other names Carbohydrate Metabolism, Inborn Error
 
SubstanceCAS Registry & nameCategoriesSource
Sucrase-isomaltase deficiency, congenital  0   *Carbohydrate Metabolism, Inborn Errors Sucrase-Isomaltase Complex/deficiency.
Hyperglycerolemia  0   *Carbohydrate Metabolism, Inborn Errors Glycerol Kinase/deficiency.
De Vivo disease  0   *Carbohydrate Metabolism, Inborn Errors Monosaccharide Transport Proteins/deficiency.
Phosphoenolpyruvate carboxykinase deficiency  0   *Carbohydrate Metabolism, Inborn Errors *Liver Diseases Phosphoenolpyruvate Carboxykinase (GTP)/deficiency.
Pentosuria  0   *Carbohydrate Metabolism, Inborn Errors Sugar Alcohol Dehydrogenases/deficiency Xylulose.
D-glycericacidemia  0   *Carbohydrate Metabolism, Inborn Errors Phosphotransferases/deficiency.

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