Metabolism Errors: Definition - Screening

BCHM462 Clinical Biochemistry

Question:

Submit a 750-1500 word essay on Inborn Errors of Metabolism addressing the following objectives

1. Define Inborn Errors of Metabolism and Newborn Screening

2. List the common inborn errors of metabolism

3. Describe for each inborn error of metabolism, the metabolic defect, and metabolic and clinical consequences

4. Describe the investigations used to screen for inherited metabolic disorders and those used for confirmation of diagnosis

5. List the disorders screened in newborns in Thumbay Labs and how they are done (you can request for information from Thumbay Labs)

Remember to write under specific headings and subheadings organizing the essay well. You can add diagrams to show metabolic pathways and defective enzymes. Do in-text referencing and bibliography following the AMA style.

This submission is only to get the similarity check from turnitin. Please submit the same document again after checking to the other assignment submission since I am not able to use the rubric with turnitin and I want you all to be able to see the rubric and the feedback

Get instant help from 5000+ experts for