Metabolic Disorders

Metabolic Disorders

Many organisms carry and express genetic mutations that alter the metabolism of the cell, in some cases resulting in disorders which can be debilitating and/or life threatening.
Plants, vertebrates and invertebrates obtain substrates for energy and building blocks, however, some compounds alter energy metabolism (increasing or decreasing rate and/or efficiency).


You should include a brief outline of the analysis method(s) used to detect or confirm the condition, from the topic list provided. Assignment (Part A), relates to lecture material conveyed in weeks 1-8, associated with disease(s) and/or medical condition(s).


1. Overview Identify the name(s), class and structure of the ‘Metabolic Disorder’ (Assignment Part A) and ‘Metabolic Manipulator’ (Assignment Part B) molecule and contextualize the intracellular metabolic biochemical pathways they affect (i.e. Protein, Carbohydrate and/or Lipid). Briefly outline the effect(s) the Disorder (Part A) and Manipulator (Part B) has on the organism locally (i.e. specific cells or tissue) and/or as a whole (i.e. the whole organism). Identify the Substrates/Precursors and the biochemical steps to produce the Disorder

(Part A) and Manipulator (Part B) (i.e. parent molecule, key enzymes & cofactors involved in synthesis) and describe the transport, half-life, receptor activation and fate following action – Disorder (Part A) effect, and Manipulator (Part B) degradation within the cell/organism. Describe the biochemical pathway(s) (i.e. Protein, Carbohydrate and/or Lipid), the selected Disorder (Part A) and Manipulator (Part B) alters, including key enzymes/cofactors and intermediates directly affected.


 2. Research Describe the most recent research (published scientific article(s)) effort 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 identification 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.


5. Policy Outline the current policies/legislation (federal, state or international) relevant to the Disorder (Part A) and Manipulator (Part B) (e.g. adverse health outcomes or legislation for therapeutic use).

Metabolic Disorders

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