Prenatal Diagnosis of Disorders of Carbohydrate Metabolism

This chapter deals with the common carbohydrate disorders that would most likely be encountered in the population. Discussion of each disorder includes the pathophysiology of the disease (primary enzymatic defect, clinical manifestations), treatments, genetic information, carrier detection, and prenatal testing. Glycogen storage diseases (GSDs) are inherited disorders that affect glycogen metabolism. The types (and associated enzymatic deficiencies) affecting the liver as the major organ are GSD types I (glucose- 6-phosphatase), III (debrancher), IV (brancher), VI (liver phosphorylase), and IX (phosphorylase b kinase), type 0 (liver glycogen synthase deficiency), as well as GSD type XI (glucose transporter-2 deficiency). The three galactose metabolism disorders are caused by defects of the following enzymes: galactose-1-phosphate uridyl transferase, galactokinase, and uridine diphosphate galactose-4-epimerase. Fructose-1,6-diphosphatase deficiency is not a defect in the fructose pathway; instead, it is a defect involved in gluconeogenesis.

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Author Deeksha Sarihyan Bali Pediatrics, Medical Genetics