ABGC Boards Metabolics Test Q&A Latest Update
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ABGC
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ABGC
ABGC Boards Metabolics Test Q&A Latest Update
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| Uploaded on: | May 12, 2025 |
| Last updated: | May 12, 2025 |
| Number of pages: | 19 |
| Written in: | 2025/2026 |
| Type: | Exam (elaborations) |
| Contains: | Questions & Answers |
| Tags: | ABGC Boards Metabolics Test Q&A Latest Update |
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ABGC Boards: Metabolics | Q&A Latest Update 2025/2026 | 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 phenylketones What is the most common defect in CAH? - Answer -Defect in 21hydroxylase, which converts 17-hydroxyprogesterone into 11deoxycortisol
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