Each enzyme of intermediary metabolism catalyzes a specific chemical reaction. When all are functioning properly, as is usually the case, there are no problems. Even if the activity of one enzyme is ~50% of normal, the effects are usually minimal, such as when someone inherits a mutated gene encoding a defective enzyme from only one parent. However, if a person inherits the same mutated gene from both parents, there is virtually no activity for the encoded enzyme. This leads to serious metabolic problems that often are fatal. Such "inborn errors of metabolism" affect more than one in every 1000 births. While the prognosis is poor in many cases, restricted diets can improvethe effects of some enzyme deficiencies. The key is early detection.
Glycogen Storage Disease (also known as von Gierke disease)
Summary of Topic - Give a brief overview of your chosen inborn error of metabolism:
• What is the error?
• What is the classification/definition?
• Describe the pathophysiology (you can use a metabolic pathway graphic).
• Describe the manifestations to the body.
• How is the inborn error of metabolism diagnosed? Is there mandatory screening?
• Provide epidemiology statistics – incidence/prevalence.
• Other relevant background information you find related to your topic.