Metabolism Gone Wrong Galactosemia Case Study

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Assignment 1: Metabolism Gone Wrong: Galactosemia

Course: Biochem 3D03
TA: Rabia Mateen
Name: Kei Cheng Mak
ID: 3122260
Date: October 15th, 2014

Introduction Metabolism consists of biochemical reactions catalyzing the conversion of complex macronutrients into usable energy by various enzymes. Energy in food is extracted from three macronutrients - carbohydrate, protein and fat. As food passes through the digestive tract, various enzymes and chemicals in the body break food particles into macronutrients and macronutrients. Macronutrients are the energy providers that are further processed into glucose, amino acids and fatty acids. Unlike glucose, fats and amino acids need to be first converted into an intermediate product of glycolysis before energy can be harnessed. When energy demand is low, these molecules are stored in muscle, liver or adipose tissue. Metabolic
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Intermediate substances accumulate causing toxic effects, and a reduction or absence of some essential products. Enzyme dysfunctions caused by genetic abnormalities interfere with the body 's metabolism. Missing or non-functioning enzymes in the metabolic pathway cause metabolic disorders, which are potentially lethal if left untreated.

Galactosemia Galactosemia is hereditary autosomal recessive metabolic disorder triggered by missing or non-functioning galactose-1-phosphate uridyl transferase (GALT) (Berry, 2012). GALT deficiency results in a disorder known as galactosemia, which happens in three forms including classic galactosemia, clinical variant galactosemia and biochemical variant galactosemia. Classic galactosemia, characterized by mutation Q188R, is associated with reduced or absence of GALT enzyme activity. It is the most common and severe form of galactosemia. Patients with S135L mutation are classified in the second type of galactosemia - Clinical variant galactosemia. The symptoms associate with

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