1. A) What are some diseases associated with Phosphoglycerate Kinase?
B) What are some of the metabolic consequences in these diseases?
C) What are the symptoms and treatments?
Please explain and answer correctly. Will Rate!
A. Some of the diseases associated with Phosphoglycerate kinase are- Hemolytic anemia, mental disorder, and Muscle myopathy. Phosphoglycerate kinase gene is located in the X chromosome, as a result, Phosphoglycerate kinase deficiency disorder is an X-linked rare genetic disorder mostly suffering male.
B. Phosphoglycerate kinase enzyme is an important enzyme involved in the glycolysis pathway. The enzyme catalyzes the transfer of a phosphate group to ADP from 1,3-bisphosphoglycerate forming ATP, the form of cellular energy. The deficiency of Phosphoglycerate results in an inability for the proper breakdown of Glycogen, the stored form of energy, resulting in low energy levels in patients.
C. Some of the symptoms associated with Phosphoglycerate kinase are- lower level of circulating RBC, intellectual disability, impaired ability to communicate, exercise-induced pain, muscle cramps and stiffness, spleen enlargement and paralysis.
1. A) What are some diseases associated with Phosphoglycerate Kinase? B) What are some of...
Phosphoglycerate Kinase (PGK) is an essential enzyme used in glycolysis (see step circled in diagram). Phosphoglycerate Kinase Deficiency (PGKD) is an X-linked genetic condition that can change how the PGK enzyme works. While there are many documented mutations that can lead to PGKD, researchers are investigating two specific cases with two different mutations with slightly different phenotypes. Marie is an XX individual that has one allele producing functional PGK enzymes and one allele that produces non-functional PGK enzymes. Would having...
Phosphoglycerate Kinase (PGK) is an essential enzyme used in glycolysis (see step circled in diagram). Phosphoglycerate Kinase Deficiency (PGKD) is an X-linked genetic condition that can change how the PGK enzyme works. While there are many documented mutations that can lead to PGKD, researchers are investigating two specific cases with two different mutations with slightly different phenotypes. PGKD is a rare genetic disease, XY individuals with PGKD are exceptionally rare. Why was Nicola able to survive while other XY people...
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Describe some of the more common pathophysiological changes and abnormal findings associated with musculoskeletal, metabolic, and multisystem health dysfunctions. Explain what symptoms are associated with the findings and how these affect patient function.
Describe some of the more common pathophysiological changes and abnormal findings associated with musculoskeletal, metabolic, and multisystem health dysfunctions. Explain what symptoms are associated with the findings and how these affect patient function.
Describe some of the more common pathophysiological changes and abnormal findings associated with musculoskeletal, metabolic, and multisystem health dysfunctions. Explain what symptoms are associated with the findings and how these affect patient function.
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