Disorders of protein metabolism:

Disorders of protein metabolism involve abnormalities in the synthesis, breakdown, or processing of proteins. Examples include phenylketonuria (PKU), where the body can't break down phenylalanine, and amino acid metabolism disorders like maple syrup urine disease. These conditions can lead to harmful levels of substances, affecting brain function and overall health.
Here are brief notes on a few more disorders of protein metabolism:

1. **Cystinuria:**
   - Characterized by impaired reabsorption of cystine in the kidneys.
   - Leads to the formation of kidney stones due to cystine buildup.

2. **Alkaptonuria:**
   - Results from a deficiency of the enzyme homogentisate 1,2-dioxygenase.
   - Causes a buildup of homogentisic acid, leading to dark pigmentation in connective tissues and urine.

3. **Homocystinuria:**
   - Involves defects in enzymes related to the metabolism of homocysteine.
   - Can lead to various complications, including intellectual disabilities, eye issues, and cardiovascular problems.

4. **Gaucher's Disease:**
   - A lysosomal storage disorder where glucocerebroside accumulates in cells.
   - Causes organ enlargement, anemia, and bone abnormalities.

5. **Fabry Disease:**
   - Results from a deficiency of the enzyme alpha-galactosidase A.
   - Leads to the buildup of globotriaosylceramide, affecting the skin, kidneys, and cardiovascular system.

6. **Wilson's Disease:**
   - Involves impaired copper transport, leading to copper accumulation in the liver and other organs.
   - Can cause liver damage, neurological symptoms, and psychiatric issues.

These disorders highlight the diverse ways in which disruptions in protein metabolism can impact various physiological processes, leading to a range of symptoms and health issues.

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