Fatty-acid metabolism disorder

Fatty-acid metabolism disorder

Fatty-acid metabolism disorder (pronunciation: /ˈfæti ˈæsɪd mɪˈtæbəlɪzəm dɪsˈɔːrdər/) is a group of metabolic disorders that affect the body's ability to break down certain types of fats, known as fatty acids.

Etymology

The term "fatty-acid metabolism disorder" is derived from the words "fatty acid", which refers to a carboxylic acid with a long aliphatic chain, and "metabolism disorder", which refers to a condition that disrupts normal metabolism, the process of converting food to energy on a cellular level.

Types of Fatty-acid Metabolism Disorders

There are several types of fatty-acid metabolism disorders, including:

• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
• Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
• Carnitine deficiency
• Carnitine palmitoyltransferase I (CPT I) deficiency
• Carnitine palmitoyltransferase II (CPT II) deficiency

Symptoms

Symptoms of fatty-acid metabolism disorders can vary widely, but may include:

• Low blood sugar (hypoglycemia)
• Fatigue
• Muscle weakness
• Seizures
• Coma

Diagnosis and Treatment

Diagnosis of fatty-acid metabolism disorders typically involves genetic testing and blood tests. Treatment may involve dietary changes, medications, and in some cases, gene therapy.

See Also

• Metabolic disorders
• Inborn errors of metabolism
• Fatty acids

External links

• Medical encyclopedia article on Fatty-acid metabolism disorder
• Wikipedia's article - Fatty-acid metabolism disorder

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