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Types of FAOD

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There are various types of FAODs.  Thanks to our partnership with the International Network for Fatty Acid Oxidation Research and Management (INFORM), below is an overview of the various FAODs, their diagnosis, treatments and symptoms.

It is important to determine which type of FAOD someone has, in order to determine the best course of treatment and to predict the risk of recurrence for future children. We encourage you to take a look at the different types of mitochondrial diseases below.

Connecting with others impacted by a rare disease allows for vital information to be shared about day-to-day life, prevents isolation, and gives hope. 

Please contact MitoAction for peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.

List of FAOD Diseases

  • ACAD9: Acyl-CoA Dehydrogenase 9 Deficiency

    Acyl-CoA dehydrogenase 9 deficiency is a type of genetic condition where an enzyme needed to break down long-chain fats is unable to function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms. The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats.

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  • CACT: Carnitine Acylcarnitine Translocase Deficiency

    Carnitine acylcarnitine translocase deficiency is a type of genetic condition where the enzyme that helps move long-chain fats into the mitochondria to be broken down is unable to function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms. The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats.

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  • CPT1a: Carnitine Palmitoyltransferase 1 Deficiency

    Carnitine palmitoyltransferase 1 deficiency is a type of genetic condition where an enzyme needed to move long-chain fats into the mitochondria to be broken down for energy does not function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms. The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats.

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  • CPT2: Carnitine Palmitoyltransferase 2 Deficiency

    Carnitine palmitoyltransferase 2 deficiency is a type of genetic condition where an enzyme that helps to prepare long-chain fatty acids for breakdown once they enter the mitochondria is not able to function properly. This prevents the body from creating needed energy during times of stress, illness, and fasting, which can lead to medical symptoms. The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats.

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  • CUD: Carnitine Uptake Defect

    Carnitine uptake defect is a type of genetic condition where a small molecule called carnitine is not able to do its job of helping fats enter the mitochondria (our powerhouse cells) where they can be broken down to create energy. This prevents the body from creating enough energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms. The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats.

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Expert Series: At the crossroad of mitochondrial disease and mitochondrial dysfunction
Presented July 25, 2023

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