Podcast
Questions and Answers
What is the primary underlying cause of hyperlipoproteinemia type II?
What is the primary underlying cause of hyperlipoproteinemia type II?
- Genetic disorder in LDL receptor synthesis (correct)
- Deficiency of carbamoyl phosphate synthetase I
- Deficiency of insulin
- Absence of glucose-6-phosphate dehydrogenase
Which metabolic disorder is characterized by the absence of insulin and results in ketoacidosis?
Which metabolic disorder is characterized by the absence of insulin and results in ketoacidosis?
- Hyperlipoproteinemia type II
- Glycogen storage disease
- Diabetes mellitus type I (correct)
- Jaundice
What causes hemolysis and increased oxidative stress in anemia due to G6-PD deficiency?
What causes hemolysis and increased oxidative stress in anemia due to G6-PD deficiency?
- Deficiency of homogentisate 1,2-dioxygenase
- Inability to process glycogen
- Cholesterol accumulation in plasma
- Lack of NADPH + H+ in red blood cells (correct)
What metabolic consequence results from a deficiency of carbamoyl phosphate synthetase I?
What metabolic consequence results from a deficiency of carbamoyl phosphate synthetase I?
Which of the following conditions is associated with the accumulation of lipids due to enzyme deficiencies?
Which of the following conditions is associated with the accumulation of lipids due to enzyme deficiencies?
Flashcards
Alkaptonuria
Alkaptonuria
A genetic disorder where the body lacks the enzyme needed to break down homogentisate, leading to a buildup of this substance, causing various symptoms.
Jaundice caused by inherited disease
Jaundice caused by inherited disease
A genetic disorder resulting from a deficiency in the UDP-glucuronyl transferase enzyme in liver cells. This leads to the accumulation of bilirubin and causes jaundice.
Diabetes mellitus type I
Diabetes mellitus type I
Characterized by the absence of insulin, leading to impaired glucose metabolism. This causes an increase in fatty acid metabolism, leading to ketogenesis and potentially ketoacidosis.
Lipidosis
Lipidosis
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Hyperammonemia type I
Hyperammonemia type I
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Study Notes
Metabolic Disorders: Examples and Mechanisms
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Hyperlipoproteinemia Type II: A hereditary disorder where LDL receptors are absent. This leads to elevated LDL (low-density lipoprotein) and cholesterol levels in the blood, potentially causing arteriosclerosis.
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Diabetes Mellitus Type I: Insulin deficiency disrupts glucose metabolism. This triggers increased fatty acid metabolism (ketogenesis), leading to ketoacidosis.
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G6-PD Deficiency Anemia: Lack of glucose-6-phosphate dehydrogenase (G6-PD) enzyme prevents the pentose phosphate pathway. This results in insufficient NADPH + H+ within red blood cells (RBCs). Oxidative stress from substances like H2O2, nitrates, and quinine causes RBC hemolysis (destruction).
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Hyperammonemia Type I: A deficiency in carbamoyl phosphate synthetase I enzyme leads to increased ammonia levels (hyperammonemia), potentially fatal.
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Inherited Jaundice: A lack of UDP-glucuronyl transferase in liver cells causes jaundice, evident in conditions like Crigler-Najjar and Gilbert syndromes.
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Lipidosis: Enzyme deficiencies in lipid/phospholipid metabolism cause lipid accumulation. Examples include Hand-Schuller-Christian disease, Niemann-Pick disease, Tay-Sachs disease, and Gaucher's disease.
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Glycogen Storage Disease: Deficiencies in glycogenolysis enzymes prevent the breakdown of glycogen in the liver, causing glycogen buildup.
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Alkaptonuria: A genetic metabolic disorder caused by a lack of homogentisate 1,2-dioxygenase, an enzyme vital in tyrosine metabolism.
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Description
Explore various metabolic disorders, including Hyperlipoproteinemia Type II, Diabetes Mellitus Type I, and G6-PD Deficiency Anemia. This quiz covers the mechanisms behind these conditions and their implications for health. Test your knowledge on inherited metabolic disorders and their impacts.
