Deposition and storage disease

1. What are the symptoms of hemochromatosis?
2. What are the symptoms of alkaptonuria?
*3. What is ochronosis?
4. What are the symptoms of Wilson's disease?
5. What are the symptoms of Gaucher's disease?

Answers:
1. Hepatic cirrhosis, cardiomyopathy, DM, pituitary dysfunction, skin pigmentation, arthritis in the hands and hips.
2. Autosomal recessive. Darkening of skin and urine, progressive degenerative arthropathy involving the spinal column and large joints.
3. Ochronosis is the darkening of tissue parts in alkaptonuria, resulting in bluish urine, cartilage, skin, and sclera.
4. Deposition of copper leading to liver cirrhosis, brain and kidney dysfunction, and Kayser-Fleisher rings in the eyes, OA in wrists, MCP, knees, spine.
5. Autosomal recessive, glucocerebroside accumulates in cells of spleen, liver, bone marrow, also resulting in hip and knee degeneration.