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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.

Types of FAODs & Related Conditions

  • 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, ... Read More
  • 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 ... Read More
  • 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 ... Read More
  • 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 ... Read More
  • 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. ... Read More
  • GA2: Glutaric Acidemia Type II
    Glutaric acidemia type II is a type of genetic condition when one of two small molecules, called electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH), are not able to do their jobs and unused fats and amino acids ... Read More
  • M/SCHAD: Medium/Short-Chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency
    Medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency is a type of genetic condition where too much insulin goes into the blood, which causes low blood sugar levels. M/SCHAD deficiency is also part of a group of genetic conditions called familial hyperinsulinism (also ... Read More
  • MCAD: Medium-Chain Acyl-CoA Dehydrogenase Deficiency
    Medium-chain acyl-CoA dehydrogenase deficiency is a type of genetic condition where an enzyme that is needed to break down medium-chain fats is unable to function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, ... Read More
  • MCKAT: Medium-Chain 3-Ketoacyl-CoA Thiolase Deficiency
    Medium chain 3-ketoacyl-CoA thiolase deficiency is a type of genetic condition where a person cannot properly break down certain types of fats. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can ... Read More
  • SCAD: Short-Chain Acyl-CoA Dehydrogenase Deficiency
    Short-chain acyl-CoA dehydrogenase deficiency is a genetic condition where a person’s body cannot properly break down certain types of fats. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to ... Read More
  • TFP / LCHAD: Mitochondrial Trifunctional Protein Deficiency / Long-Chain 3-Hydroxyacyl-CoA dehydrogenase Deficiency
    Mitochondrial trifunctional protein deficiency and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency are two related types of genetic conditions where the enzymes that are needed to break down long-chain fats are unable to function properly. This prevents the body from creating needed energy ... Read More
  • VLCAD: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
    Very long-chain acyl-CoA dehydrogenase deficiency is a genetic condition where the enzyme that is needed to break down very long-chain fats is unable to function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, ... Read More

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Expert Series: Pyruvate Dehydrogenase Complex Deficiency Essentials: including current trials/research and prospects for newborn screening
Presented October 17, 2024

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