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Biochemistry - Essay Example

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Pages 5 (1255 words)


An infant patient suffers from hypotonia, poor feeding, and low weight gain. In an effort to diagnose his condition, you examined mitochondria in muscle cells obtained from a biopsy and detect a deficiency in oxidative metabolism. The patient's mitochondria consumed oxygen normally when incubated with pyruvate and malate; succinate; or palmitoyl CoA and carnitine…

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Deduce the likely enzyme deficiency causing the infant's condition and explain how this deficiency can cause his symptoms. How might you treat this disorder
The lack of the denaturase enzyme results in a build up of unreduced LFA and a increased request of caritine to transport the accumulating waste products. The caritine is then becoming acylated with the LFA which results in low serum caritine and a disruption of fatty acid metabolism overall.
2. Wakil's pioneering studies on the synthesis of fatty acids included the crucial observation that bicarbonate was required for the synthesis of palmitoyl CoA. He was surprised to find that very low levels of bicarbonate could sustain palmitate biosynthesis and that there is no correlation between the amount of bicarbonate required and the amount of palmitate produced. Explain these observations and describe how radiolabelled bicarbonate could be used to support your explanation.
The following reactiom is the accepted mechanism for producing the long chain fatty acid palmitoyl-CoA. When acetyl coenzyme A, malonyl coenzyme A and reduced triphospopyridine nucleotide (TPNH) are used as substrates palmitic acid is the principal product of the reaction. Naturally the reaction is enzymatic. ...
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