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Phenylketonuria is a heritable condition in humans characterized by inability to
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- Phenylketonuria (PKU) is a genetic disorder that causes the abnormal metabolism of the amino acid called phenylalanine. PKU is an autosomal recessive disease due to a mutation in the gene encoding the enzyme phenylalanine hydroxylase. Phenylalanine hydroxylase (PAH) usually converts excess phenylalanine into tyrosine. In persons with PKU, the remaining phenylalanine is instead converted into phenylpyruvate (also known as phenylketone). This results in a poisonous build-up of phenylketone in the blood and urine that is why it is called phenylketonuria. When PKU is untreated, it can lead to brain damage, mental retardation and other serious medical problems. Babies with PKU are normal at birth due to the mother’s ability to break down phenylalanine during pregnancy. PKU can be diagnosed through a simple blood test for elevated phenylalanine levels shortly after birth.Answer the following questions:1. What is phenylketonuria (PKU)? How important is the synthesis of correct proteins?2. How…Which of the following is correct? A. The gene CYP21A2 is the one that codes for the formation of glucose-6 phosphate dehydrogenase B. Simple virilizing form of Congenital adrenal hyperplasia is the most sever form of this disorder C. Salt wasting type of congenita adrenal hyperplasia is the most severe form of this disorder. D. The gene CYP21A1 is the one that codes for the formation of galactokinase in type 2 galactosemia.Which of the following chemicals are required for the conversion of alanine to pyruvate andammonium? Vitamin B6 Niacin Both A and B Neither A nor B Which of the following statements is true for a baby with phenylketonuria? Phenylalanine becomes an essential amino acid for the baby An alternative pathway is used to synthesize tyrosine for the baby Both A and B Neither A nor B
- For the following people. Use H to represent the production of the functional phenylalanine hydroxyls enzyme and h to represent the production of non-functional phenylalanine hydroxyls. Match the person to their genotypeExplain the metabolic pathway deficiency that causes the autosomal recessive disorder phenylketonuria (PKU), and describe the symptoms, treatments, prognosis, and reproductive implications of the disorderGlucose-6-phosphatase deficiency (G6PD), also known as von Gierke disease, is glycogen storage disease. It is an autosomal recessive disease occurring most frequently in males of African or Middle Eastern descent. G6PD is involved in many reactions, but we will focus on the following simplified pathway: The conversion of glycogen to glucose is called:
- The following diagram shows the biosynthesis of B12 coenzymes, starting with the vitamin. DMB is dimethylbenzimidazole. (a) What one additional substrate or cofactor is required by enzyme B?(b) Genetic deficiency in animals of enzyme C would result in excessiveurinary excretion of what compound?(c) Some forms of the condition described in (b) can be successfully treatedby injection of rather massive doses of vitamin B12. What kind ofgenetic alteration in the enzyme would be consistent with this result?(d) Genetic deficiency in animals of enzyme B will result in excessive urinaryexcretion of what amino acid?Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder that presents in newborns, typically within the first 48 hours after birth. As the name suggests, a key indicator of the disease is the presence of a sweet odor in the urine that smells like maple syrup. Left untreated, MSUD can result in failure of central neurological function and the respiratory system and can be fatal. MSUD is caused by mutations in components of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC). These mutations result in the inability for cells to break down branched-chain amino acids (BCAAs). BCAAs and their byproducts accumulate and are excreted in the urine, giving rise to the maple syrup scent. QUESTIONS: Draw the structures of the three branched-chain amino acids (BCAA). Draw the structures of the three BCAA products released by functional BCKDC. Indicate the original amino acid.PKU Worksheet Read the following paragraph about a genetic disorder identified as an inborn error of metabolism. Illustrate your understanding of metabolic pathways and mutations by responding to the guiding questions. Please also use this link ( https://rarediseases.org/rare-diseases/phenylketonuria/ ) for more information. Phenylketonuria (PKU) is an inherited disorder that is identified as an inborn error of metabolism. It is easily detectable during the first days of life through newborn screening tests. A drop of the infant’s blood can determine the presence of the enzyme that is responsible for processing the essential amino acid phenylalanine. With normal enzyme activity, phenylalanine is converted to another amino acid (tyrosine), which is then utilized by the body to produce melanin (pigmentation in hair, skin, eyes), thyroid and other hormones. However, when the phenylalanine hydroxylase enzyme is absent or deficient, phenylalanine abnormally accumulates in the blood. A…
- Leber’s Hereditary Optic Neuropathy (LHON) is a disease that involves degeneration of neural cells in the retina and results in loss of central vision. The disease is caused by mutations in any one of three genes in the mitochondrial genome that encode proteins involved in oxidative phosphorylation. In a genetic counseling clinic, a woman and her husband seek advice on the potential that any of their children would be afflicted with LHON. The husband's mother and father, both exhibit symptoms of the disease, but the woman does not. What is a reasonable advising statement to make?Leber’s Hereditary Optic Neuropathy (LHON) is a disease that involves degeneration of neural cells in the retina and results in loss of central vision. The disease is caused by mutations in any one of three genes in the mitochondrial genome that encode proteins involved in oxidative phosphorylation. In a genetic counseling clinic, a woman and her husband seek advice on the potential that any of their children would be afflicted with LHON. The husband's mother and father, both exhibit symptoms of the disease, but the woman does not. What is a reasonable advising statement to make? a. The couple should be advised that all of their children are likely to display symptoms of LHON. b. There is not enough information to advise this couple. c. The couple should be advised that none of their children will be affected. d. The couple should be advised that all their male children will display symptoms of LHON, but female children will be unaffected. e. The couple should be…Treatments for urea cycle enzyme deficiencies summarize deficiencies and the strategies for treatment.Chose one urea cycle enzyme disorder and describe what are the symptoms and how are the symptoms connected to the mutation? How are the disorder discovered and treated? Is there a dietary approach to treatment and, if so, why does it work? How common is the disorder? Are there populations were incidence more prevalent? And What is the prognosis? (include references)