encyclopedia of medical concepts
ψ
ψ
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
Substance
CAS Registry & name
Categories
Source
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.
