Fatty-acid metabolism disorder

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Fatty-acid metabolism disorder
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Hypoglycemia, lethargy, muscle weakness, cardiomyopathy, liver dysfunction
Complications	Rhabdomyolysis, sudden infant death syndrome
Onset	Infancy or early childhood
Duration	Chronic
Types	N/A
Causes	Genetic mutation in enzymes involved in fatty acid oxidation
Risks	Fasting, illness, exercise
Diagnosis	Blood test, urine test, genetic testing
Differential diagnosis	Hypoglycemia, mitochondrial disease, glycogen storage disease
Prevention	N/A
Treatment	Dietary management, medium-chain triglyceride supplementation, carnitine supplementation
Medication	Carnitine
Prognosis	Variable, depends on specific disorder and management
Frequency	Varies by specific disorder, some are rare
Deaths	N/A

Acyl-CoA from cytosol to the mitochondrial matrix

Fatty acid metabolism disorder is a group of conditions that affect the body's ability to break down certain fats. The body normally uses fats for energy. However, in people with fatty acid metabolism disorders, the body is unable to convert these fats into energy, which can lead to a variety of symptoms.

Symptoms

Symptoms of fatty acid metabolism disorders can vary widely, but may include hypoglycemia, muscle weakness, and fatigue. In severe cases, these disorders can lead to serious complications such as liver disease and heart disease.

Causes

Fatty acid metabolism disorders are caused by mutations in certain genes. These mutations can be inherited from both parents. The specific gene mutation will determine the type of fatty acid metabolism disorder a person has.

Diagnosis

Diagnosis of fatty acid metabolism disorders typically involves genetic testing. This can help identify the specific gene mutation causing the disorder. Other tests, such as blood tests and urine tests, may also be used to help confirm the diagnosis.

Treatment

Treatment for fatty acid metabolism disorders typically involves dietary changes. This may include avoiding certain types of fats and consuming a diet high in carbohydrates. In some cases, medication may also be needed.

See also

• Metabolic disorder
• Genetic disorder
• Inborn errors of metabolism

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