Inborn Errors of Metabolism (IEM) refer to a group of genetic disorders that result from defects in enzymes or metabolic pathways, leading to the body’s inability to properly convert food into energy or essential molecules.

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These conditions often involve a blockage or deficiency in a specific enzyme necessary for a metabolic process.

Examples of Inborn Errors of Metabolism include:

Phenylketonuria (PKU): This disorder arises due to a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine in the blood. Untreated PKU can result in intellectual disability and other neurological problems.
Maple Syrup Urine Disease (MSUD): It’s caused by a deficiency in the enzyme complex that breaks down certain amino acids. This leads to the buildup of amino acids in the blood and urine, resulting in a characteristic sweet smell. If not managed, it can lead to neurological issues and even death.
Gaucher’s Disease: This is a lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase, leading to the accumulation of certain lipids in cells, particularly in the spleen, liver, and bone marrow.
Cystic Fibrosis: Although primarily known as a disorder affecting the respiratory and digestive systems, cystic fibrosis is also an IEM. It’s caused by mutations in the CFTR gene, which results in problems with the transport of chloride ions across cell membranes, leading to thick, sticky mucus production.

These disorders often manifest early in life and can have severe consequences if not diagnosed and managed promptly through dietary restrictions, enzyme replacement therapies, or other treatments aimed at alleviating symptoms and preventing complications.