Biochemical Disorders PDF

TOPIC 2: Biochemical Disorder MODULE 2: Understanding of Biochemistry LEARNING OUTCOME OF THE TOPIC Acquire knowledge about the biochemical deficiency and disorder it leads to Introduction A series of biochemical reactions occurs in our body , in case of failure of this process it leads to...

TOPIC 2: Biochemical Disorder MODULE 2: Understanding of Biochemistry LEARNING OUTCOME OF THE TOPIC Acquire knowledge about the biochemical deficiency and disorder it leads to Introduction A series of biochemical reactions occurs in our body , in case of failure of this process it leads to biochemical disorder Biochemical disorders are genetic diseases that effect one of the biochemical processes in our body. The most common processes that occur in our body is  Metabolism  Glycolysis  Glycogenesis  Gluconeogenesis  Glycogenolysis What is metabolism ? A biochemical process that occurs within living organism from the time of ingestion until its excretion. Under metabolism comes 1) Anabolism : Biochemical reactions involved in the process of synthesis of large molecules from smaller ones 2) Catabolism : Biochemical reactions involved in breakdown of large molecules into smaller for supply of energy. Carbohydrate metabolism Glycolysis : the breakdown of glucose ,leading to the production of energy. o Glycolysis is an anaerobic phase of carbohydrate metabolism o All the enzymes of glycolysis are found in extra mitochondrial soluble fraction of cell o Occurs in cytoplasm o The end product is pyruvate Carbohydrate metabolism Glycogenesis : synthesis of glycogen from glucose o begins with conversion of glucose to glucose -6- phosphate via Hexokinase o The four steps in glycogenesis are ;  Glucose phosphorlyation  glucose-1-phosphate formation  Glucose activation  Glucose addition to polymer backbone o Occurs mainly in muscle and liver Carbohydrate metabolism Gluconeogenesis : formation of glucose from non carbohydrate sources such as glycerol. o It occurs it liver and kidney and to some extend in small intestine in condition like fasting o Provides glucose when dietary intake is insufficient or absent Metabolic disorders Vitamin deficiency Diabetes Liver disease Hypertension Other conditions like chronic kidney disease , high cholesterol level , cardiovascular disease are due to the risk factor diseases mentioned above. Vitamin deficiency disorders  Ariboflavosis Paresthesia dermatitis VITAMIN SOURCES VITAMIN A Sweet potato , carrot VITAMIN B Egg , milk VITAMIN B1 Fish , meat ,green peas VITAMIN B2 Dairy products VITAMIN B3 Meat VITAMIN B5 Cereals , avocados VITAMIN B6 Banana , potato VITAMIN B7 Mushroom , potato , meat VITAMIN B9-B12 Fish , green vegetables VITAMIN B17 Nuts , almonds VITAMIN C Kiwi , lemon , oranges VITAMIN D Sunlight , meat VITAMIN E Plant based oils , sunflower seed , nuts VITAMIN K Green leafy vegetables , cabbage , sprouts Diabetes A condition in which glucose cannot be converted into energy, due to the malfunctioning of pancreas which fails to secrete enough insulin. Pancreas secrets insulin and glucagon both of which regulates blood sugar Insulin helps lower down blood sugar level whereas glucagon helps increase blood sugar whenever necessary. There are 2 main types of diabetes mellitus  Type 1 – insulin dependent  Type 2 – non insulin dependent  Gestational diabetes – occurs during pregnancy  Types Of Diabetes Type 1 – Insulin dependent Juvenile onset Complete failure of pancreatic beta cell Type 2 – Non insulin dependent Physiological defect or exhaustion of pancreas Gestational diabetes – A form of diabetes affecting pregnant women Effects women who cant make enough insulin during pregnancy Symptoms and normal range Symptoms Polytypsia - excessive thirst. Polyuria - frequent urination. Polyphasia – frequent or increased hunger. Normal range condition Indian standard American diabetes association Fasting 70-110 mg/dl 80-130 mg/dl Post -prandial Less than 140 mg /dl Less than 180 mg/dl Random 120 mg / dl or less 125 mg/dl or less  Liver Disease Any condition that damages the liver and prevents it from functioning well. Each metabolic liver disorder has its own genetic cause and some disorders have more than one abnormal gene that causes the disorder. Metabolic liver disease is genetic , meaning that one or both parents pass a copy of an abnormal gene down to children. This disease can affect babies , children and even adults  Types and symptoms Types – Hereditary hemochromatosis Alpha -1 antitrypsin deficiency Wilson disease Symptoms Severe itching Pale eyes and skin Difficulty weight gain Fat- soluble vitamin deficiency abdominal pain swelling , bruising , bleeding  fatigue  Hypertension Hypertension is related to impaired metabolic homeostasis and so is regarded as metabolic disorder Obesity and high salt intake are major risk factor for hypertension Hypertension is related to several condition with abnormalities in carbohydrate metabolism High blood pressure is a common condition that affects the body's arteries. It's also called hypertension. If you have high blood pressure, the force of the blood pushing against the artery walls is consistently too high. The heart has to work harder to pump blood. Blood pressure is measured in millimeters of mercury (mm Hg). Normal blood pressure is 120/80 mm Hg Stage 1 hypertension ; The top number ranges from 130 to 139 mm Hg or the bottom number is between 80 and 89 mm Hg. Stage 2 hypertension. The top number is 140 mm Hg or higher or the bottom number is 90 mm Hg or higher. Hope now you will be able to describe different types of biochemical disorders