Question

Find three diseases in humans where there is a metabolic defect that results in an inability to process or metabolize specific Carbohydrates Proteins or amino acids Fats (lipids) For each disease, explain the pathophysiology of the disease and the symptoms that an individual with the disease experiences.

Answer 1

1. Steatorrhoea - it is the condition caused by deficiency of pancreatic lipase, resulting in malabsorption of fat. Steatorrhoea is the formation of bulky, foul smelling, frothy and clay like stools with large quantity of undigested fats. It cause impaired digestion and absorption of fats. Causes are-

1. Lack of pancreatic lipase

2. Liver diseases

3. Celiac disease

4. Cystic fibrosis.

Symptoms will be foul smelling stool, weight loss, fatigue etc.

2. Lactose intolerance- it is a condition in which the lactose is not able to get digested in our body. The cause of this indigestion is absence of enzyme lactase, which help in breakdown of lactose.

Symptoms include malabsorption, gas, belching, bloating .

3. Crohn's disease- it is an inflammation of small intestine. It affects the lower part of intestine, the ileum. The inflammation causes malabsorption and diarrhea.

Crohn's disease is caused because of abnormalities of immune system. The immune system reacts to virus or bacteria, resulting in inflammation.

Symptoms include- malabsorption of vitamin, weight loss, abdominal pain, diarrhoea, anemia, fever.