Explain the metabolic pathway deficiency that causes the autosomal recessive disorder phenylketonuria (PKU), and describe the symptoms, treatments, prognosis, and reproductive implications of the disorder
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and describe the symptoms, treatments, prognosis, and reproductive implications of the disorder
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- Name the misfolded protein associated with each of the following diseases: Alzheimer’s, Huntington’s, Parkinson’s, andtype 2 diabetes.Define the metabolic syndrome. Briefly discuss the two theories that describe the condition, including the interrelationships of various metabolic disorders. Which factors must be present for a person to be considered as having metabolic syndrome? What might be your professional recommendations for a person who is at risk due to genetics to prevent metabolic syndrome? What might be your professional recommendations for treatment of the syndrome after diagnosis?Which of the following are considered to be factors involved in the pathological features of Down Syndrome? Development of beta amyloid plaques Abnormal Superoxide Dismutase activity Hyperphosphorylated Tau proteins Misfolded alpha-synuclein proteins OA & B are correct
- discuss the metabolic defects that causes phenylketonuria and the strategies used to diagnose and treat this condition.Neurofibromatosis type 1 (NF1) is an inherited is an inheritent dominant disorder. The phenotype usually involves the production of many skin neurofibromas. Answer the following questions about the disorder: a) Are the NF1 neurofibromatosis-causing mutations that are inherited by affected children from affected parents likely to be loss-of-function or gain-of-function mutations? b) Neurofibromin, the protein product of NF1, is associated with the Ras protein. Ras is involved in the transduction of extracellular signals from growth factors. The active form of Ras is complexed with GTP; the inactive form is complexed with GDP. Would the wild-type neurofibromin protein favor the formation of Ras-GTP or Ras-GDP? c) Which of the following events in a normal cell from an individual inheriting a neurofibromatosis-causing allele could cause the descendents of that cell to turn into a neurofibroma? i. A second point mutation in…Acatalasemia is a rare autosomal recessive condition that results in no expression of the enzyme catalase; however, persons with this condition are usually only mildly affected. The enzyme catalase is found in most organisms and is a protection against oxidative damage, specifically breaking down the highly reactive oxygen species, hydrogen peroxide. Symptoms may include mouth ulcers that disappear with good dental hygiene; with poor dental hygiene, the ulcers can lead to gangrene in the mouth soft tissues. Persons with this condition usually do not know they are affected unless a family member is tested for the mutation. Dejah recently learned that her Uncle Malik had a dental surgery that was complicated by mouth ulcers and gangrenous tissue that had to be removed. The oral surgeon had learned about genetic conditions that affect oral hygiene and recognized that this could be acatalasemia, and ordered genetic testing. Uncle Malik was positive for this recessive condition, having…
- Early detection and adherence to a strict dietary regimen have prevented much of the intellectual disability that used to occur in those with phenylketonuria (PKU). Affected individuals now often lead normal lives and have families. For various reasons, such individuals tend to adhere less rigorously to their diet as they get older. Predict the effect that mothers with PKU who neglect their diets might have on newborns.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 genotypeDescribe both the primary gene or protein defect and the resulting phenotype for the following diseases a) Cystic fibrosis, b) Gaucher's disease
- Explain why the telomeres of people with DKC are shorter than normal.Cori’s disease, is an autosomal recessive metabolic disorder that is characterized by defects in the glycogen debranching enzyme amylo-1,6-glucosidase,4-α-glucanotransferase (AGL). It primarily effects the Liver, heart and skeletal muscle. Symptoms can include hyperlipidemia, ketoacidosis, and hypoglycemia. The possible dietary recommendations are as follows:1. A high protein diet to facilitate gluconeogenesis2. A ketogenic diet to provide an alternate source of energy3. Small frequent meals to prevent hypoglycemia4. A high fat dietWhich dietary recommendations can be used to treat this disorder? a) 2 and 4 b) 1 and 2 c) 2 and 3 d) 1 and 3 e) None of the above recommendations would be effective f) 3 and 4 g) 1 and 4Phenylketonuria is a heritable condition in humans characterized by inability to metabolize the amino acid phenylalanine because of failure to produce the enzyme phenylalanine hydroxylase. Among other symptoms. PKUs develop such severe mental retardation that they almost never reproduce. Phenylketonuria children are born to parent who are not phenylketonuria. In as much as Phenylketonuria so rarely reproduce, why does such a disadvantagous gene persist in the population?