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Greacia B (07120080008) PBl Session One Week Three Findings: Galactosemia o A disease that occurs in an autosomal recessive conditions

o A persons body is unable to convert galactose in the body into glucose and lactose (classic galactosemia) o This is caused by the lack of GALT enzyme present (Galactose Phosphate Uridyl transferase) o Inability to metabolize galactose causes galactose-1- phosphate to build up in the body (can cause damage to the liver, central nervous system and other body systems) o Homogeneous recessive (so it comes form two carrier parents) o Gene happens on the chromosome 9 (gene mutation) o Many mutatiton relating to GALT enzyme but the most common one is Q188R

Glycolysis o Breaking down of sugar into pyruvate o Happens in the cytoplasm o Anaerobic respiration of cells (can happen with no present of oxygen) Krebs Cycle o The metabolic activity which yields energy by converting pyruvate into energy in the form of ATP

Cell Organelles and its functions o Mitochondria- respiration o Lysosome- digestion o Golgi apparatus- repacks and modifies the protein o Endoplasmic reticulum- packs the protein o Nucleus- storage of genetic information o Ribosome- protein synthesis o Cytoskeleton- give cell its structure and also pathway for endocytosis and exocytosis o Plasma membrane- controls transport of substance in and out of cell

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