Metabolic Disorder: Acetyl-Carnitine Deficiency - Biology Assessment Answer

Biology Assessment

1. Overview Identify the name(s), relevant EC number, class and/or structure of the ’Metabolic Disorder’ (Report Part A) and ’Metabolic Manipulator’ (Report Part B) molecule and contextualize the intracellular metabolic biochemical pathways they a?ect (i.e. Protein, Carbohydrate, Lipid &/or Oxidative Phosphorylation). Brie?y outline the e?ect(s) the Disorder (Part A) and Manipulator (Part
B) has on the organism locally (i.e. speci?c cells or tissue) and/or as a whole (i.e. the whole organism). Identify the Substrates/Precursors and the biochemical/chemical synhesis steps to producetheDisorder(PartA)andManipulator(PartB)(i.e. parentand/oractivemolecule,keyenzymes&cofactors involved in the disorder) and describe the relevant transport, half-life, receptor activation and fate following action Disorder (Part A) e?ect, and Manipulator (Part B) degradation within the cell/organism. Describe the biochemical pathway(s) (i.e. Protein, Carbohydrate, Lipid &/or Oxidative Phosphorylation), the selected Disorder (Part A) and Manipulator (Part B) alters, including key enzymes/cofactors and intermediates directly a?ected.
2. Research Describe the most recent research (published scienti?c article(s)) e?ort pertaining to the Disorder (Part A) and Manipulator (Part B). This may include, but not limited to, characterization of metabolic status, biochemical pathways, receptors and signal transduction within cells or tissue and the identi?cation of potential therapeutic(s).
3. Diagnosis Identify the disease state(s)/or consequence(s) of the Disorder (Part A) and Manipulator (Part B) that arise if there is a genetic defect (Part A) or chemical perturbation (Part B) in the metabolic/biosynthetic pathway of target cells/tissues.
4. Treatment Describe the current treatment(s)/strategy(ies), approved for use, to overcome the disease state as a consequence of Disorder (Part A) and Manipulator (Part B). Comment on, with the aid of statistical information, the change in prognosis as a consequence of treatment.

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