Feature congenital metabolic disorders due to the inability to convert phenylalanine to tyrosine. Characteristics of the disease maple syrup. General analysis of multisystem frustration of connective tissue with the help of classical homocystinuria.
MINISTRY OF EDUCATION AND SCIENCE OF UKRAINE NATIONAL AVIATION UNIVERSITY INSTITUTE OF ECOLOGICAL SAFETY DEPARTMENT OF BIOTECHNOLOGY Home task On the discipline: “Biochemistry” Topic: “Pathology of amino acid metabolism” Student: Litvin Irina Group IES 304 Leader: Vasylchenko O.A Kyiv 2013 Contents Introduction 1. Phenylketonuria 2. Maple Syrup Urine Disease 3. Homocystinuria 4. Cystinuria 5. Glycine encephalopathy Conclusion References Introduction Twenty amino acids, including nine that cannot be synthesized in humans and must be obtained through food, are involved in metabolism. Amino acids are the building blocks of proteins; some also function as or are synthesized into important molecules in the body such as neurotransmitters, hormones, pigments, and oxygen-carrying molecules. Each amino acid is further broken down into ammonia, carbon dioxide, and water. Amino acids accumulate in body fluids when there are genetic defects i.e. inborn errors of metabolism (IEM), that affect their metabolism or transport
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