Blueprint ID | Learning Objectives |
8563 | Describe the impact of inborn errors of carbohydrate metabolism impacts on carbohydrate homeostasis. |
8564 | List possible causes of hyperammonemia. |
8565 | Describe potential mechanisms of ammonia toxicity. |
8566 | Describe the impact of inborn errors of metabolism affecting the urea cycle enzymes on ammonia and urea cycle intermediates, and amino acid metabolism. |
8567 | List genetic defects in the heme synthetic pathway. |
8568 | Describe the causes and precipitating factors of acute intermittent porphyria and congenital erythropoietic porphyria. |
8569 | Describe how and why newborns are screened for genetic metabolic disease. |
8570 | Describe the laboratory tests for urinary-reducing substances, plasma amino acids, urine organic acids, urine mucopolysaccharides and oligosaccharides. |
8571 | Describe the main type of inherited metabolic disease screened for by the above tests. |
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