User:Tony Mach/inborn

Digestion
Lactose intolerance.

Fructose malabsorption.

...

Overview of intracellular carbohydrate metabolism
UDP-glucose 4-epimerase

Glycogenesis
Glycogenesis is the metabolic pathway in which glycogen is created. Glycogen, which consists of branched long chains made out of the simple sugar glucose, is an energy storage for carbohydrates in many human cells; this is most important in liver, muscle and certain brain cells.

The monosaccharide glucose-6-phosphate (G-6-P) is typically the input substance for glycogenesis. G-6-P is most commonly created from glucose by the action of the enzymes glucokinase (see glycolysis step 1) or hexokinase.

On an alternative metabolic pathway the simple sugar galactose (Gal, which is typically derived from lactose) is converted by the enzyme galactokinase (GALK) to galactose-1-phosphate (Gal-1-P), which in turn is converted by the enzyme galactose-1-phosphate uridylyltransferase (GALT) to glucose-1-phosphate (G-1-P), which can also serve as an substrate for glycogen synthesis – this bypasses the first step of glycogenesis (the enzyme phosphoglucomutase PGM).

The enzyme glycogenin (GYG) is needed to create initial short glycogen chains, which are lengthened and branched by the other enzymes of glycogenesis.

Current version at: Inborn errors of carbohydrate metabolism

Glycogenolysis
Current version at: Inborn errors of carbohydrate metabolism

Exercise intolerance: fatigue, muscle pain, and cramps during the first few minutes of exercise.

Glycolysis other

 * LDHA


 * ADH1B  ADH1B
 * ADH5   ADH5
 * AKR1A1 AKR1A1
 * ALDH2  ALDH2
 * ALDH7A1 ALDH7A1
 * DLAT   DLAT
 * DLD    DLD
 * FBP1   FBP1
 * GOT2   GOT2
 * HK1    HK1
 * HK3    HK3
 * MDH1   MDH1
 * MDH2   MDH2
 * PCK2   PCK2
 * PDHA1  PDHA1
 * PDHB   PDHB
 * PKM    PKM  PYRUVATE KINASE, MUSCLE;
 * SLC2A1 SLC2A1

Glycolysis

 * HK1
 * HK3

Current version at: Inborn errors of carbohydrate metabolism

Related to glycogenolysis
Glycogenosis Current version at: Inborn errors of carbohydrate metabolism