Metabolism and Nutrition in Genetic Disorders Quiz

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Questions and Answers

What is the ultimate precursor for the synthesis of most dispensable amino acids?

Plasma Proteins

Glucose (correct)

CO2, H2O

Feces

What accounts for up to 8% of the basal metabolic rate in the synthesis of certain amino acids?

Urinary Nitrogen Breakdown

Body Protein Precursor-product relationship

De novo synthesis (correct)

Special Products Synthesis

Which amino acid's only sulfur atom comes from methionine?

Methionine

Cysteine (correct)

Serine

Homocysteine

Which amino acid can be synthesized from α-Ketoglutarate?

Glutamate Signup and view all the answers

What is the main purpose of myoglobin in muscle?

Oxygen reserve Signup and view all the answers

Which amino acid is a precursor for the synthesis of thyroxine, epinephrine, norepinephrine, and melanin?

Tyrosine Signup and view all the answers

What is the main function of Coenzyme Q (ubiquinone) in mitochondria?

Oxidative phosphorylation Signup and view all the answers

Which deficiency is associated with dermatitis, diarrhea, dementia, and death?

Niacin deficiency Signup and view all the answers

Which amino acid is synthesized from oxaloacetate?

Aspartate Signup and view all the answers

Which molecule serves as a good reservoir of energy in resting muscle?

Creatine phosphate Signup and view all the answers

Which vitamin is synthesized from tryptophan and requires pyridoxine (vitamin B6) for its synthesis?

Niacin (vitamin B3) Signup and view all the answers

Which amino acid is crucial in ammonia detoxification, especially in hypermetabolic adults and babies?

Arginine Signup and view all the answers

What is the autosomal recessive disorder that affects the chloride channel CFTR, leading to thick mucus in the lungs and requiring pancreatic enzyme replacement for digestion?

Cystic fibrosis Signup and view all the answers

Which genetic disorder is caused by non-functioning phenylalanine hydroxylase, leading to toxic phenylketones in urine and damage to the developing brain?

Phenylketonuria Signup and view all the answers

What is the key antioxidant that plays a vital role in intracellular protection against oxidative stress, immune system function, and erythrocyte function?

Glutathione Signup and view all the answers

Which drug's toxic metabolite NAPQI can cause hepatocellular damage and liver failure?

Acetaminophen Signup and view all the answers

What process does CRISPR-Cas9 gene editing therapy aim to trigger to treat sickle cell anemia?

Production of fetal haemoglobin Signup and view all the answers

Which amino acid is essential in creatine synthesis in muscle and protein synthesis?

Methionine Signup and view all the answers

What plays a role in glucose synthesis and the Cori Cycle, affecting ATP production and the overall metabolic process?

Serine Signup and view all the answers

What is the key process related to amino acid metabolism that involves methylation reactions, vitamins, homocysteine, and liver function, crucial in premature infants and intravenous feeding?

Sulphur amino acid metabolism Signup and view all the answers

Explain the concept of de novo synthesis of dispensable amino acids and its significance in the context of amino acid metabolism.

De novo synthesis refers to the production of amino acids from basic precursor molecules within the body, rather than relying solely on dietary intake. This process is significant as it allows the body to maintain a pool of amino acids for various metabolic functions, such as protein synthesis, energy production, and the synthesis of other important molecules. De novo synthesis of dispensable amino acids also contributes to the basal metabolic rate, with high flux rates and a substantial proportion of certain amino acids being synthesized in this manner. The ultimate precursor for most dispensable amino acids is glucose, except for cysteine, which obtains its sulfur from methionine. Signup and view all the answers

Discuss the kinetic view of sulfur-containing amino acids and their synthesis, with a focus on the interplay between different amino acids and their metabolic pathways.

The kinetic view of sulfur-containing amino acids encompasses the intricate metabolic pathways involved in the synthesis of cysteine, methionine, and other related molecules. Notably, cysteine and methionine are both crucial sulfur-containing amino acids, with cysteine being synthesized in part from methionine. The process involves the conversion of homocysteine to cysteine via cystathionine, emphasizing the interconnectedness of these amino acids within the body. Additionally, the synthesis of cysteine and other sulfur-containing amino acids accounts for a significant portion of the basal metabolic rate, highlighting their metabolic importance and interdependent pathways. Signup and view all the answers

Elaborate on the role of special products, tracers, and enzymes in the synthesis and metabolism of dispensable amino acids, emphasizing their contribution to overall metabolic processes and homeostasis.

Special products, tracers, and enzymes play essential roles in the synthesis and metabolism of dispensable amino acids, contributing to the maintenance of homeostasis and overall metabolic processes. Special products serve as intermediates and end products in various pathways, facilitating the synthesis of dispensable amino acids and their incorporation into essential metabolic functions. Tracers are utilized to study the kinetics and pathways involved in amino acid metabolism, providing valuable insights into their synthesis and utilization within the body. Enzymes, including those involved in high flux rates and de novo synthesis, are crucial for catalyzing the biochemical reactions necessary for amino acid synthesis and metabolism, ultimately supporting the body's metabolic demands and overall function. Signup and view all the answers

Which molecule is crucial in premature infants and intravenous feeding, involving methylation reactions, vitamins, homocysteine, and liver function?

Sulphur amino acid metabolism Signup and view all the answers

What is the main function of glutathione in the body?

Intracellular protection against oxidative stress, immune system function, and erythrocyte function Signup and view all the answers

What is the toxic metabolite of acetaminophen that can cause hepatocellular damage and liver failure?

NAPQI Signup and view all the answers

What genetic disorder is caused by non-functioning phenylalanine hydroxylase, leading to toxic phenylketones in urine and damage to the developing brain?

Phenylketonuria (PKU) Signup and view all the answers

What gene editing therapy aims to trigger production of fetal haemoglobin to treat sickle cell anemia?

CRISPR-Cas9 Signup and view all the answers

What is the key protein affected in cystic fibrosis?

Chloride channel CFTR Signup and view all the answers

What amino acid is conditional indispensable in amino acid synthesis, limited by patient, feeding regimen, and organ function?

Arginine Signup and view all the answers

What is the key role of citrulline in the body, especially in hypermetabolic adults and babies?

Ammonia detoxification, polyamine synthesis, and nitric oxide synthesis Signup and view all the answers

What does sickle cell anemia affect in the body?

Red blood cells, causing them to be misshapen and sticky, affecting blood flow Signup and view all the answers

What key process does CRISPR-Cas9 gene editing therapy aim to trigger to treat sickle cell anemia?

Production of fetal haemoglobin Signup and view all the answers

What is the main function of myoglobin in muscle?

Myoglobin serves as an oxygen reservoir in muscle tissue, providing oxygen to the mitochondria during muscle activity. Signup and view all the answers

What is the main purpose of Coenzyme Q (ubiquinone) in mitochondria?

Coenzyme Q plays a crucial role in the phosphorylation process in mitochondria, converting the energy in carbohydrates and fatty acids into ATP to drive cellular machinery and synthesis. Signup and view all the answers

What is the genetic disorder associated with deficiency in niacin?

Pellagra is the genetic disorder associated with niacin deficiency, characterized by the 4D's: dermatitis, diarrhea, dementia, and death. Signup and view all the answers

What is the key function of coenzyme A in energy metabolism?

Coenzyme A serves as a cofactor and activator of molecules with carbonyl groups, as well as a carrier of acyl moieties in energy metabolism. Signup and view all the answers

What is the purpose of creatine phosphate in muscle adaptations?

Creatine phosphate serves as a good reservoir of energy in resting muscle and provides a quick source of ATP for working muscle. Signup and view all the answers

What is the special role of tryptophan in amino acid metabolism?

Tryptophan serves as a precursor for the synthesis of serotonin, a neurotransmitter, and is also involved in niacin synthesis. Signup and view all the answers

What are the 4D's associated with pellagra, a deficiency related to niacin?

The 4D's associated with pellagra are dermatitis, diarrhea, dementia, and death. Signup and view all the answers

What are the sources of synthesis for coenzyme Q (ubiquinone)?

Coenzyme Q is synthesized from phenylalanine or tyrosine, along with acetyl CoA. Signup and view all the answers

Study Notes

Metabolism and Nutrition in Genetic Disorders

Sulphur amino acid metabolism involves methylation reactions, vitamins, homocysteine, and liver function, crucial in premature infants and intravenous feeding.
Glutathione, a key antioxidant, plays a vital role in intracellular protection against oxidative stress, immune system function, and erythrocyte function.
Acetaminophen, also known as paracetamol, is a common drug, but its toxic metabolite NAPQI can cause hepatocellular damage and liver failure.
Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by non-functioning phenylalanine hydroxylase, leading to toxic phenylketones in urine and damage to the developing brain.
CRISPR-Cas9 gene editing therapy aims to trigger production of fetal haemoglobin to treat sickle cell anemia, which is caused by misshapen and sticky red blood cells.
Cystic fibrosis is an autosomal recessive disorder affecting the chloride channel CFTR, leading to thick mucus in the lungs and pancreatic enzyme replacement for digestion.
Conditional indispensability in amino acid synthesis may be limited by patient, feeding regimen, and organ function, with arginine being key in ammonia detoxification.
Citrulline is important in ammonia detoxification, polyamine synthesis, and nitric oxide synthesis, especially in hypermetabolic adults and babies.
Creatine synthesis in muscle and protein synthesis are essential processes related to amino acid metabolism.
Serine plays a role in glucose synthesis and the Cori Cycle, affecting ATP production and the overall metabolic process.
Sickle cell anemia is marked by red blood cells that are misshapen and sticky, affecting blood flow.
CRISPR-Cas9 gene editing therapy aims to trigger production of fetal haemoglobin that is normally made only in developing fetuses to treat sickle cell anemia.