How is Glucose-6-Phosphatase Related to Genetic Disorders?
Mutations in the gene encoding glucose-6-phosphatase can lead to Glycogen Storage Disease Type I (GSD I), also known as von Gierke disease. This condition is characterized by severe hypoglycemia, lactic acidosis, hyperlipidemia, and hepatomegaly. Understanding the enzymatic activity and regulation of glucose-6-phosphatase is crucial for diagnosing and managing such genetic disorders.
