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Questions and Answers
What are Inborn Errors of Metabolic Disorders (IEMs)?
Rare genetic or inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways.
Which factors affect Basal Metabolic Rate (BMR)?
Inborn Errors of Metabolism are always life-limiting conditions.
False
What is the primary cause of Inborn Errors of Metabolism?
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IEMs are typically transmitted in an ______ or X-linked recessive fashion.
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What processes are included in metabolism?
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What happens in an abnormal metabolic pathway?
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Most inherited metabolic disorders are individually common.
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Study Notes
Metabolism
- Refers to chemical processes in the body used to convert or use energy that allow life and normal functioning
- Includes breaking down carbohydrates, proteins, and fats, transforming excess nitrogen into waste, and breaking down or converting chemicals into other substances
Metabolic Rate
- Basal metabolic rate (BMR) is energy used at rest
- Thermic effect of food is energy used to digest and absorb food
- Energy used during physical activity is also a factor
- Factors that affect BMR include age, body size, gender, growth, dietary deficiencies, drugs, hormones, and genetics
Inborn Errors of Metabolism (IEMs)
- Are a group of genetic disorders caused by enzyme defects in biochemical metabolic pathways affecting proteins, fats, and carbohydrates.
- IEMs can be categorized based on their onset, predominate signs and symptoms, main organs or systems affected, or acuity or chronicity of presentation
- IEMs are genetic conditions that result in metabolism problems
- Most people with IEMs have a defective gene that results in an enzyme deficiency
- IEMs are individually rare diseases but collectively common, accounting for significant illness, especially in children
- IEMs are life-limiting conditions that require palliative care
- IEMs are inherited biochemical abnormalities of urea cycle, amino acid, and organic acid metabolism
- IEMs are multi-system disorders
- IEMs comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway leading to either accumulation of substrate behind the block or deficiency of the product
- All IEMs are genetically transmitted typically in an autosomal recessive or X-linked recessive fashion.
- IEMs present at birth, persist throughout life, are relatively benign, and are transmitted recessively in families.
Metabolic Pathway
- Think of metabolic pathways as a river
Abnormal Metabolic Pathway
- Think of metabolic disease as a block in a river
Normal Metabolic Pathway
- Has a normal gene resulting in a normal enzyme that produces a product from dietary intake
- The dietary intake is the substrate.
- The enzyme reactions result in a product.
- All IEMs have a mutant gene, which can cause either a surplus substance to build up behind the block, or a deficiency in the product.
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Description
Explore the essential chemical processes that sustain life, including metabolism and the factors influencing metabolic rate. This quiz covers the basics of energy conversion in the body, the significance of basal metabolic rate (BMR), and the implications of inborn errors of metabolism. Test your knowledge on these crucial biological concepts.
