Inborn error of lipid metabolism

Inborn error of lipid metabolism is a group of genetic disorders characterized by the body's inability to properly metabolize lipids, or fats. These disorders can result in a variety of health problems, including organ damage, neurological impairment, and in severe cases, death.

Types of Inborn Errors of Lipid Metabolism

There are several types of inborn errors of lipid metabolism, including:

• Fatty acid oxidation disorders: These disorders occur when the body is unable to break down certain types of fats into energy, leading to a buildup of fatty acids in the body. Examples include Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).

• Lysosomal storage diseases: These are a group of disorders that result from the buildup of certain substances in the body's cells. Examples include Gaucher's disease and Niemann-Pick disease.

• Peroxisomal disorders: These disorders occur when the body's peroxisomes, small structures within cells that help break down fats, are not functioning properly. Examples include Zellweger syndrome and Adrenoleukodystrophy.

Symptoms

The symptoms of inborn errors of lipid metabolism can vary widely depending on the specific disorder and its severity. They may include:

• Failure to thrive: This refers to a child's inability to gain weight or grow at the expected rate.
• Hepatomegaly: This is the medical term for an enlarged liver.
• Neurological impairment: This can include developmental delays, seizures, and other neurological problems.
• Cardiomyopathy: This is a disease of the heart muscle that can lead to heart failure.

Diagnosis and Treatment

Diagnosis of inborn errors of lipid metabolism typically involves a combination of physical examination, medical history, and laboratory tests. Genetic testing may also be used to confirm a diagnosis.

Treatment for these disorders typically involves dietary management to limit the intake of certain fats, and in some cases, medications or enzyme replacement therapy may be used. In severe cases, organ transplantation may be necessary.

See Also

• Metabolic disorder
• Genetic disorder
• Lipid metabolism