Characteristic Metabolites for Inborn Errors of Lipid Metabolism

Inborn errors of metabolism are rare genetic disorders in which specific enzymes that help metabolize food are defect, leading to a wide range of symptoms, including developmental delays or other medical problems.

Many inherited metabolic diseases are caused by defects in lipid metabolism. Lipid metabolism disorders, such as Fabry disease, Gaucher disease, metachromatic leucodystrophy, Niemann-Pick disease, Refsum disease, Tangier disease, and Tay-Sachs disease,often result from a harmful accumulation of unusual lipids in the blood and tissues of affected patients that can lead to damage in cells. Since many of these conditions are impairing and can be fatal, correct identification of these lipids is vital for proper diagnosis and treatment of these disorders.

Promising therapeutic approaches are being developed with our wide range of metabolites.

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