Disorders of Carbohydrate Metabolism

Inborn errors of carbohydrate metabolism covered in this chapter include disaccharidase deficiencies, disorders of monosaccharide metabolism, glycogen storage diseases, and gluconeogenic disorders. This chapter focuses mainly on clinical aspects, genetics and current treatments for these disorders. The defective digestion of dietary disaccharides lactose and sucrose is due to deficiencies of lactase and sucrase–isomaltase respectively. Disorders of monosaccharide metabolism include defects in transport (glucose–galactose malabsorption), enzymatic defects in galactose, fructose and pentose metabolism. Disorders of glycogen metabolism include over 12 glycogenoses. Glycogen storage diseases (GSD), a major category of glycogenoses, are categorized by the type of tissue involved: liver, muscle, and/or cardiac. Gluconeogenic disorders entail deficiencies of fructose-1,6-diphosphatase, pyruvate carboxylase, phosphoenolpyruvate carboxykinase, and pyruvate dehydrogenase complex.

Duke Scholars

Author Priya Sunil Kishnani Pediatrics, Medical Genetics