More and more researchers are discovering that many diseases are caused by biochemical deficiencies or defects. That is, instead of indicating a disease is caused by a nutritional deficiency, researchers recognize that an underlying cause may be a single molecular structure within a cell that fails to turn on or turn off a cellular process. This is particularly true regarding metabolism.
As a biochemical researcher, you have been asked to review two cases in which the attending medical specialist believes there may be a biochemical cause for symptoms presented by the respective patients. The doctor has provided an overview and specific questions for each case; some of these questions directly apply to the case, while others involve biochemistry.
Background information: The patient (SH) is a five-month-old female who presents with symptoms that include vomiting, dehydration, and unexplained fever. SH also shows symptoms of excessive urination and sweating. Parents report that the symptoms began when they started to feed SH juice and baby food fruits, and SH has exhibited a loss of appetite and seems to be growing much slower than their other children did. During the exam, generalized tremors are noted, the liver is swollen, and jaundice is noted in the eyes and skin. Liver and kidney function tests indicate they are not functioning.
Diagnosis based on exam and laboratory tests: Hereditary fructose intolerance
Background information: The patient (MW) is a two-year-old male who presents with a history of developmental delays and one seizure of unknown origin at one year old. MW has attempted to stand, but has difficulty pulling himself up and cannot sustain a standing position for more than a short period. MW voices sounds, but has not used any words. On physical examination, MW presents with hypotonia, general motor weakness, and fatigability. MW?s height is less than the 50% range for his age group. According to the parent, the symptoms of ptosis and weakness have increased slowly since birth.
Differential diagnosis based on exam and laboratory tests: Mitochondrial disease
Write a brief report (suggested length of 2 pages) that provides responses to the doctor?s questions in which you do the following:
A. Case 1 - To help the doctor determine treatment for a diagnosis of hereditary fructose intolerance:
1. Explain how enzymes
are involved in processes such as the breakdown of fructose.
(Provide a credible and well-supported explanation of how enzymes
are involved in processes such as the breakdown of fructose).
B. Case 2 - The doctor suspects mitochondrial disease which can occur at multiple levels in different mitochondrial processes. To help the doctor determine where the defect might have occurred:
1. Explain what would happen to the amount of energy available to a cell if the entire Cori cycle occurred and remained within that single cell (i.e., a muscle cell).
( Provide a credible and well-supported explanation of what would happen to the amount of energy available to a cell if the entire Cori cycle occurred and remained within that single cell.)
2. Explain where in the citric acid cycle a hypothetical defect of an enzyme
could occur that prevents an increase in adenosine triphosphate (ATP) production in response to an increased energy need and how the products of the citric acid cycle are converted into ATP.
( Provide a credible and well-supported explanation of where in the citric acid cycle a hypothetical defect of an enzyme
could occur that prevents an increase in ATP production and how the products of the citric acid cycle are converted into ATP).
C. If you use sources, include all in-text citations and references in APA format.
Note: Please save word-processing documents as *.rtf (Rich Text Format) files.
Note: When using sources to support ideas and elements in a paper or project, the submission MUST include APA formatted in-text citations with a corresponding reference list for any direct quotes or paraphrasing. It is not necessary to list sources that were consulted
if they have not been quoted or paraphrased in the text of the paper or project.
Note: No more than a combined total of 30% of a submission can be directly quoted or closely paraphrased from sources, even if cited correctly.
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