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ABGC Boards: Metabolics | Q&A Latest Update 2024/2025 | 100% Pass
Preview 3 out of 19 pages
ABGC Boards: Metabolics | Q&A Latest Update 2024/2025 | 100% Pass What causes inborn errors of metabolism? - Answer -Enzyme deficiencies What causes the symptoms of IEMs? - Answer -1. Accumulation of substrate, or 2. Deficiency of product T/F: Individuals with IEMs usually have dysmorphic features - Answer -F What is the usual inheritance pattern of IEMs? - Answer -Recessive T/F: IEMs usually have effective treatment options - Answer -T Why are IEMs common targets of NBS? - Answer -Effective, preventive treatments available What is the defect in PKU? - Answer -Defect in phenylalanine hydroxylase, which converts phenylalanine to tyrosine What does high phenylalanine cause? - Answer -Accumulation of pheny
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