"Inborn errors of metabolism" assignment

Choose a human genetic defect in one of the major metabolic pathways you have studied this year. The defect could be in an enzyme in the pathway OR in a transporter required for the pathway to operate in humans. The defect must have been reported from real patients. Use your presentation to explain the disease to your classmates. Your information should include:

• the clinical name of the defect (if known)
• the biochemical reaction which is affected
• the metabolic pathway which is affected (how does the affected reaction fit into the pathway?)
• how is the problem diagnosed (e.g. is there a diagnostic metabolite in the blood?)
• what are the symptoms for the patient and what happens if the problem is not treated?
• how is the problem treated if it is treatable?