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Questions and Answers
Which of the following conditions is characterized by a deficiency in branched chain keto acid dehydrogenase?
Which of the following conditions is characterized by a deficiency in branched chain keto acid dehydrogenase?
Which type of Maple Syrup Urine Disease is identified by severe deficiency of the enzyme?
Which type of Maple Syrup Urine Disease is identified by severe deficiency of the enzyme?
What is NOT a common sign or symptom of Maple Syrup Urine Disease?
What is NOT a common sign or symptom of Maple Syrup Urine Disease?
Which type of analysis is primarily used to diagnose Maple Syrup Urine Disease?
Which type of analysis is primarily used to diagnose Maple Syrup Urine Disease?
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What dietary modification is crucial in managing Maple Syrup Urine Disease?
What dietary modification is crucial in managing Maple Syrup Urine Disease?
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What is a primary symptom associated with infantile scurvy?
What is a primary symptom associated with infantile scurvy?
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Which vitamin is directly related to collagen hydroxylation?
Which vitamin is directly related to collagen hydroxylation?
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What is a consequence of a high intake of vitamin C?
What is a consequence of a high intake of vitamin C?
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Which factor negatively impacts calcium absorption in the human body?
Which factor negatively impacts calcium absorption in the human body?
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What is the primary source of calcium in the diet?
What is the primary source of calcium in the diet?
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Postmenopausal osteoporosis is primarily linked to a decrease in which hormone?
Postmenopausal osteoporosis is primarily linked to a decrease in which hormone?
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What is the plasma calcium level range considered normal?
What is the plasma calcium level range considered normal?
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What is the role of vitamin D in relation to calcium?
What is the role of vitamin D in relation to calcium?
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Which regulators primarily increase calcium levels in the plasma?
Which regulators primarily increase calcium levels in the plasma?
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What is the consequence of vitamin D deficiency in children?
What is the consequence of vitamin D deficiency in children?
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What is the primary treatment for hypocalcemia?
What is the primary treatment for hypocalcemia?
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In which condition is bone demineralization impaired?
In which condition is bone demineralization impaired?
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What type of rickets cannot be effectively treated by increasing vitamin D intake?
What type of rickets cannot be effectively treated by increasing vitamin D intake?
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What is the active form of vitamin D known as?
What is the active form of vitamin D known as?
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Which process does Calcitriol NOT directly influence?
Which process does Calcitriol NOT directly influence?
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What happens to 1-hydroxylase activity when plasma phosphorus levels are low?
What happens to 1-hydroxylase activity when plasma phosphorus levels are low?
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What is primarily responsible for the brittle bones in Osteogenesis Imperfecta?
What is primarily responsible for the brittle bones in Osteogenesis Imperfecta?
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Which of the following is a treatment for Osteogenesis Imperfecta?
Which of the following is a treatment for Osteogenesis Imperfecta?
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What is the primary consequence of a deficiency in vitamin C related to collagen?
What is the primary consequence of a deficiency in vitamin C related to collagen?
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In which condition is hypermobility of joints a characteristic sign?
In which condition is hypermobility of joints a characteristic sign?
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What type of Ehlers-Danlos Syndrome is characterized by lethal arterial rupture?
What type of Ehlers-Danlos Syndrome is characterized by lethal arterial rupture?
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During which age should adults over 70 years take 20mg/day of vitamin D?
During which age should adults over 70 years take 20mg/day of vitamin D?
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Which of the following correctly describes the structure of collagen?
Which of the following correctly describes the structure of collagen?
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What is a common symptom of Osteogenesis Imperfecta related to posture?
What is a common symptom of Osteogenesis Imperfecta related to posture?
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What is the primary cause of Marfan Syndrome?
What is the primary cause of Marfan Syndrome?
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Which of the following is a major characteristic symptom of Osteomalacia?
Which of the following is a major characteristic symptom of Osteomalacia?
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What is the composition of the precursor tropoelastin?
What is the composition of the precursor tropoelastin?
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In which type of Mucopolysaccharidosis is the enzyme alpha-L-iduronidase deficient?
In which type of Mucopolysaccharidosis is the enzyme alpha-L-iduronidase deficient?
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What is a key difference between osteomalacia and osteoporosis regarding age?
What is a key difference between osteomalacia and osteoporosis regarding age?
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Which of the following statements accurately describes GAGS?
Which of the following statements accurately describes GAGS?
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What are the symptoms associated with the accumulation of GAGS in Mucopolysaccharidoses?
What are the symptoms associated with the accumulation of GAGS in Mucopolysaccharidoses?
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In the formation of desmosine, which components interact during the cross-linking of elastin?
In the formation of desmosine, which components interact during the cross-linking of elastin?
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Study Notes
Scurvy
- Type: Infantile Scurvy (Barlow's Disease)
- Symptoms: Collagen synthesis problems, capillary hemorrhages, muscle weakness, bone weakness, swollen and soft gums, wound healing issues, and dental issues.
- Cause: Deficiency of vitamin C (ascorbic acid), low intake of fresh vegetables.
- Sources: Citrus fruits, banana, apple, tomato, onion, carrot, potato, liver, and milk.
- Forms: Ascorbic acid, dehydroascorbic acid.
Vitamin C Functions
- Collagen Hydroxylation: Collagen network formation, and development.
- Iron Absorption: preventing the conversion of Fe²⁺ to Fe³⁺, thereby aiding in iron absorption.
- Antioxidant: Protects against heart and cancer diseases.
Osteoporosis
- Cause: Low calcium intake.
- Postmenopausal osteoporosis: Estrogen decrease with age, leading to osteoclast activity increase, and bone loss.
- Treatment: Increasing calcium absorption by increasing 1,25-(OH)₂D, and increasing vitamin D (active form) in the body to stimulate absorption.
Calcium Function
- Function: Muscle contraction, bone and tissue development, blood clotting, nerve impulse transmission, enzyme activation.
- Absorption: Absorbed in the duodenum.
- Factors affecting absorption: Vitamin D, parathyroid hormone (PTH), low pH, lactose, and amino acids (lysine, arginine).
- Factors affecting absorption (negative): Fatty acids and dietary fibers, high pH
- Ca:P ratio: 1:2 or 2:1; should not exceed two times.
Hypercalcemia
- Definition: High calcium blood level (more than 9-11 mg/dL)
- Cause: Hyperparathyroidism (high PTH).
- Symptoms: Stones, nausea, muscle weakness, constipation.
Hypocalcemia
- Definition: Low calcium blood level (less than 9-11 mg/dL)
- Cause: Hypoparathyroidism (low PTH).
- Symptoms: Muscle spasms, convulsive seizures
Vitamin D
- Function: Active form: 1,25-dihydroxycholecalciferol/calcitriol storage form: 25-hydroxycholecalciferol.
- Metabolism: Skin: 7-dehydrocholesterol to cholecalciferol. Liver: converts to 25-hydroxycholecalciferol. Kidney: 25-hydroxycholecalciferol to 1,25-dihydroxycholecalciferol.
Function of Calcitriol
- Function
- Intestine: Binds to calcitriol receptor, produces the protein Calbindin that binds to calcium for absorption.
- Kidney: Decreased calcium excretion.
- Bone: Increased osteoblast activity, increases calcium absorption.
- Sources: Fatty fish, liver, egg yolk.
Rickets
- Cause: Deficiency of vitamin D, due to low exposure to sunlight.
- Symptoms: Muscle weakness, joint pain, bowed legs, rachitic rosary (chest), swollen wrist and ankle joints.
- Treatment: Vitamin D supplementation, sunlight exposure.
- Types: Resistant/Renal Rickets: Inability of kidneys to convert vitamin D to active form.
Maple Syrup Urine Disease (MSUD)
- Description: Urine smells like maple syrup.
- Cause: Branched chain keto-acid dehydrogenase deficiency.
- Symptoms: Severe mental retardation, lethargy, vomiting, coma.
- Treatment: Diet low in branched-chain amino acids, high in thiamine (vitamin B1).
Ehlers-Danlos Syndrome (EDS)
- Description: Connective tissue disorder.
- Causes: Mutations in fibrillin-1 protein.
- Symptoms: Mild bone fragility, multiple fractures, in utero fractures,kyphosis, blue sclerae, and skeletal deformities
- Types: Vascular type and classic type
- Defects: In collagen synthesis
Marfan Syndrome
- Cause: Mutation in fibrillin-1 protein.
- Symptoms: Tall stature, long extremities, flexible joints, scoliosis, aortic abnormalities, eye problems.
Mucopolysaccharidoses (MPS)
- Description: Group of inherited metabolic disorders that involve the accumulation of glycosaminoglycans (GAGs).
- Causes: Deficiency of enzymes needed for GAG degradation.
- Symptoms: Mental retardation, skeletal deformities, organomegaly, and other systemic problems.
GAGs
- Description: Large, negatively charged heteropolysaccharides.
- Function: Component of extracellular matrix (ECM), lubrication of joints, providing flexibility to cartilage.
- Types: Hyaluronic acid, chondroitin sulfate, keratin sulfate, heparin sulfate, dermatan sulfate.
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Description
This quiz covers key topics related to nutritional deficiencies, specifically focusing on scurvy and the role of vitamin C. It also addresses osteoporosis, its causes, and treatments. Test your understanding of these crucial health topics.
