Inborn errors of metabolism (IEM) are hereditary biochemical disorders caused by single-gene mutations that result in alteration of
belongs to book: MCQs in Pediatrics Review of Nelson Textbook of Pediatrics|Zuhair M Almusawi, Hasanein Ghali|20th edition| Chapter number:11| Question number:11.1
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(D). Many childhood conditions are caused by single-gene mutations that encode specific proteins. These mutations can result in the alteration of primary protein structure or the amount of protein synthesized. The function of a protein, whether it is an enzyme, receptor, transport vehicle, membrane component, or structural element, may be compromised or abolished.
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