Briefly examine the Inborn Errors of metabolism in man with suitable examples. 

Inborn errors of metabolism (IEM) refer to a group of rare genetic disorders caused by mutations in genes that encode enzymes responsible for metabolic pathways. These enzymatic defects disrupt the normal metabolism of carbohydrates, proteins, lipids, or nucleic acids, leading to the accumulation of toxic substances or deficiencies of essential metabolites. These disorders are primarily inherited in an autosomal recessive manner, although X-linked and autosomal dominant patterns are also observed in some cases.

Classification of Inborn Errors of Metabolism

IEMs can be broadly classified into the following categories based on the metabolic pathway affected:

1. Disorders of Carbohydrate Metabolism
2. Disorders of Protein Metabolism
3. Disorders of Lipid Metabolism
4. Disorders of Nucleic Acid Metabolism
5. Disorders of Complex Molecule Degradation
6. Energy Metabolism Disorders

Disorders of Carbohydrate Metabolism

Carbohydrate metabolism disorders arise due to defects in the breakdown, storage, or synthesis of sugars. Examples include:

1. Galactosemia

   • Cause: Deficiency in the enzyme galactose-1-phosphate uridyl transferase (GALT).
   • Manifestations: Symptoms appear in newborns fed milk and include jaundice, vomiting, hepatomegaly, cataracts, and intellectual disability if untreated.
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