1.3

Disorders of carbohydrate metabolism

Disorders affecting carbohydrate metabolism represent a diverse group of conditions with varying clinical presentations. These disorders can be categorised based on either deficiencies or hyperactivity of specific enzymes involved in carbohydrate metabolism. Thus, they can impact various pathways, including the metabolism of galactose, fructose, and glycogen. Moreover, these conditions may affext glycolysis, gluconeogenesis, and transmembrane transport and absorption.

1.3.a

Disorders of galactose and fructose metabolism

Galactose-1-phosphate uridylyltransferase deficiency (Classic galactosemia; galactosemia type 1) Galactose epimerase…
1.3.b

Disorders of gluconeogenesis

Fructose-1,6-bisphosphatase deficiency Pyruvate carboxylase deficiency Cytosolic phosphoenolpyruvate carboxykinase deficiency Mitochondrial…
1.3.c

Disorders of glycolysis

Hemolytic anemia due to hexokinase deficiency Hereditary motor and sensory…
1.3.d

Disorders of glycogen metabolism

Muscle glycogenin 1 deficiency (Glycogen storage disease type 15; polyglucosan…
1.3.e

Disorders of pentose metabolism

Glucose-6-phosphate dehydrogenase deficiency Ribose 5-phosphate isomerase deficiency Transaldolase deficiency Transketolase deficiency…
1.3.f

Disorders of carbohydrate transmembrane transport and absorption

GLUT1 deficiency (GLUT1 deficiency) Neuronal glucose transporter deficiency (Intellectual developmental…

Subnetworks

cfao 1

C-FAO

Carbohydrate, fatty acid oxidation and ketone bodies disorders

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