Template:Inborn errors of carbohydrate metabolism

From Food & Medicine Encyclopedia

(Redirected from Template:Carbohydrate metabolic pathology)

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (E73–E74, 271)
Including glycogen storage diseases (GSD)

Sucrose, transport
(extracellular)

Disaccharide catabolism	* Congenital alactasia Sucrose intolerance
Monosaccharide transport	* Glucose-galactose malabsorption Inborn errors of renal tubular transport (Renal glycosuria) Fructose malabsorption

Hexose → glucose

Monosaccharide catabolism

Fructose:	* Essential fructosuria Fructose intolerance
Galactose / galactosemia:	* GALK deficiency GALT deficiency/GALE deficiency

Glucose ⇄ glycogen

* GSD type 0 (glycogen synthase deficiency)

GSD type IV (Andersen's disease, branching enzyme deficiency)
Adult polyglucosan body disease (APBD)

Extralysosomal:	* GSD type III (Cori's disease, debranching enzyme deficiency) GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency) GSD type V (McArdle's disease, myophosphorylase deficiency) GSD type IX (phosphorylase kinase deficiency)
Lysosomal (LSD):	* GSD type II (Pompe's disease, glucosidase deficiency)

Glucose ⇄ CAC

Glycolysis	* MODY 2/HHF3 GSD type VII (Tarui's disease, phosphofructokinase deficiency) Triosephosphate isomerase deficiency Pyruvate kinase deficiency
Gluconeogenesis	* PCD Fructose bisphosphatase deficiency GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency)

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