Fatty Acid Oxidation Disorders (FAODs)

Summary

Rare genetic consitions

FAODs are rare genetic conditions that affect how the body uses fat for energy.

What it is

Symptoms can vary

Symptoms and day-to-day effects vary between FAODs and between people.

What it feels like

Diagnosis may use several tests

It may involve newborn screening, blood tests, genetic testing and other assessments.

How it is found

Care is based on individual needs

Care is based on the type of FAOD and the person’s individual needs.

How care is planned

What are fatty acid oxidation disorders?

Fatty acid oxidation disorders (FAODs) are rare genetic conditions.^1,2

Genes are instructions that help the body grow and function. In a FAOD, a change in a gene affects a protein that helps move or break down fatty acids.²

Fatty acids are parts of fat that the body can use for energy.² Fatty acids can come from food or from fat stored in the body.

This page explains features shared across many FAODs. It does not describe every type in detail. Links to information about specific FAODs are included near the end of the page.

Mito Foundation supports people with FAODs

FAODs affect fatty acid oxidation, a process that happens inside mitochondria. FAODs may be described as mitochondrial diseases or as inherited metabolic conditions that affect how the body uses fat.³ Whatever term is used, people living with FAODs in Australia, along with their families and carers, are welcome to access Mito Foundation information and support services.

How the body uses fat for energy

The body needs energy to breathe, move, think, grow and keep its organs working. It gets energy from food and can store extra energy for later.

Glucose is a type of sugar that gives the body a quick source of energy. When a person has not eaten for a while, such as between meals or overnight, their glucose stores start to run low. This can also happen during illness. The body then relies more on stored fat.⁴

Fat is the body’s largest store of energy. Stored fat is broken into smaller parts called fatty acids. Fatty acids travel through the blood and enter cells.

Cells are the tiny building blocks that make up the body.

Inside most cells are small structures called mitochondria. Mitochondria help turn fuel into energy that cells can use.⁵

To use fatty acids for energy, the body relies on proteins that help move and break them down. Some fatty acids need special transport proteins to enter the mitochondria. Once inside, other proteins called enzymes help break down the fatty acids for energy.²

The process used to break down fatty acids is called fatty acid oxidation. A main part of this process is called beta-oxidation (β-oxidation).⁶ Some fatty acids are also used to make ketones, which can provide energy for the brain, muscles and heart when glucose is low.

In a FAOD, one of the proteins in this process does not work as expected. This may stop some fatty acids from reaching the mitochondria or being broken down for energy.²

An overview of the fatty acid oxidation process
This diagram shows a simple overview of how the body uses stored fat for energy.

Six-step diagram showing how fat from food and stored fat provides fatty acids, which enter cells and are moved into mitochondria to help make energy. In a FAOD, a protein involved in moving or breaking down fatty acids does not work as expected.

Figure 1. How the body uses fat for energy. Adapted from^7,8

How FAODs relate to mito

FAODs and other types of mitochondrial disease (mito) can both affect how the body makes energy. FAODs affect how fatty acids reach the mitochondria or how they are broken down for energy.²

One way to picture this is to think of mitochondria as engines. Fatty acids are one type of fuel. A FAOD affects how that fuel reaches the engine or is used inside it. Other types of mito may affect a different part of the engine or how it makes energy.

This example is only a guide. The effects can overlap and vary between people.²

FAODs and other types of mito both reduce the energy available to cells. Some parts of the body need more energy than others, including the muscles, heart and brain. Because of this, symptoms may include fatigue, muscle weakness, difficulty with long periods of activity or periods of becoming unwell.²

Main types of FAODs

FAODs can be grouped in two main ways:

by the length of the fatty acid affected
by the step in the process that is affected.²

A fatty acid is made from a chain of tiny building blocks called carbon atoms.

Diagram showing a fatty acid as a chain of carbon atoms, pictured as beads joined together. Short, medium, long and very long chains are shown with increasing numbers of beads.

Figure 2. Fatty acid chain lengths. Adapted from²

The beads are a visual guide and do not show exact carbon numbers.

Fatty acids may be described as:

short-chain
medium-chain
long-chain
very long-chain.²

These words describe the length of the fatty acid. They do not describe how serious a FAOD is.

Long-chain fatty acids need special transport proteins to enter the mitochondria. Short-chain and medium-chain fatty acids can enter without these transport proteins.²

Some FAODs affect proteins that break down fatty acids of a certain length. Others affect proteins that move fatty acids into mitochondria. These are often called fatty acid transport disorders. They may not fit into one chain-length group.³

The effects depend on the protein and step involved.

Information about specific FAODs

The MitoAction website has information about specific FAODs, diagnosis, symptoms, treatments and day-to-day life. It also has videos on topics such as FAOD basics and laboratory tests.

MitoAction is based in the United States. Information about newborn screening, emergency care, treatments, health services and access to care may differ in Australia.

Read MitoAction’s information about specific fatty acid oxidation disorders

Planning for urgent care

If your metabolic specialist thinks you may get unwell quickly, they may give you an emergency plan. If you do not have a metabolic specialist, you could ask the specialist you see who knows about FAODs.

An emergency plan lists your diagnosis and care information from your care team. It can help to keep a copy with you. This could be on paper, on your phone or saved where you or your carer can find it fast. You can show the plan if you go to hospital, need an ambulance or see a new health professional. It can also help to keep current contact details for your main care team. This may include your general practitioner (GP), metabolic specialist or another specialist. You can also list other health professionals who know you well.

Access the Australian Care standards for mito

Access important information about medicines

Hi, I'm Julian.

“Julian was diagnosed with medium chain acyll dehydrogenase (MCAD) deficiency* through newborn screening when he was 11 days old. Early diagnosis gave our family a treatment plan and helped us know what to do when he became unwell. Growing up involved regular feeds, careful planning and many hospital visits. When I shared our story, Julian was 19 and studying at university.”

*MCAD deficiency is a type of FAOD.

Beyond the basics

Learn more and find support to help you navigate your journey with mito.

1973 – One of the first FAODs was recognised

In 1973, researchers identified carnitine palmitoyltransferase II deficiency. It was one of the first inherited FAODs to be recognised.⁹

1970s to 2010s – More FAODs were identified

Researchers have since identified more than 20 types of FAOD. These conditions affect different proteins and steps used to turn fat into energy, and have been discovered by a range of scientists from multiple countries.³

1990s – Newborn screening program expanded

Some FAODs were added to newborn screening programs, including in Australia. Earlier diagnosis has helped improve outcomes by allowing care to begin sooner.^10,11

2010s – First clinical trial

A clinical trial began in the early 2010s to test triheptanoin specifically as a treatment for long-chain FAODs. The study looked at how safe the medicine was and how well it worked.¹²

Triheptanoin is a type of medium-chain fat made for medical use.¹³ Because it has shorter fat chains, the body can use it without relying on some of the steps needed to use long-chain fats.

The study found that people with LD-FAODs who received triheptanoin had improved heart function and a lower heart rate during exercise compared with people who received another treatment.¹⁴ These results helped support further research into triheptanoin.

2020 – First medicine approved in the United States

In 2020, the United States Food and Drug Administration (FDA) approved triheptanoin (Dojolvi®) for children and adults with long-chain FAODs. It was the first medicine approved in the United States for this group of conditions.¹⁵

More than 20 types of FAOD have been identified.¹⁶

FAODs are rare. Newborn screening data from Australia, Germany and the United States show that FAODs affect about 1 in 9,300 births.¹⁷ This number is based on data from three countries. It is not an exact figure for Australia.

Rates can differ between countries and groups of people.¹⁷ They can also depend on which FAODs are counted and how newborn screening is done.¹

In most countries MCAD deficiency is the most common FAOD. Of the long-chain FAODs, VLCAD deficiency and LCHAD deficiency are among the most common.²

FAODs are a multi-system condition. This means more than one part of the body is affected.

FAODs can affect people in different ways. The signs and symptoms depend on the type of FAOD and the person’s age. Not everyone will have every sign or symptom. Some people may have only a few. Others may have no symptoms for long periods.^6,11

Common symptoms include low blood sugar and problems affecting the liver, muscles and heart. Brain problems can occur in several FAODs. Nerve, vision and breathing problems are linked more closely with certain FAOD types.^1,6,18,19

Babies and young children are more likely to have low blood sugar or problems affecting the liver or heart. In some FAODs, muscle problems are more common when symptoms begin later in life.^1,8,18,19

Why symptoms can happen

Because FAODs affect how the body uses fat, symptoms may appear when the body relies more on fat or needs more energy than usual. In some FAODs, fatty acids or related substances may also build up and affect how cells work.^3,6

Symptoms may appear or become stronger when the body has less fuel or needs more energy. This may happen during:

illness
eating much less than usual
going without food for a time, called fasting
surgery
long periods of physical activity
lack of sleep.⁶

The age and pattern of symptoms can vary between people and FAOD types.

A metabolic specialist or another health professional can explain which symptoms may be linked with a person’s FAOD and assess any new or changing symptoms.

Energy and blood sugar (how the body uses fuel)

Food gives the body sugar to use for energy. The liver stores some sugar for later. If a person has not eaten for a while, this stored sugar starts to run out. The body then uses stored fat for energy. The liver can also turn fat into ketones. Ketones give the body another source of energy when sugar is low.

In some FAODs, the body cannot use stored fat as expected. The body may have less energy available and make few or no ketones. The liver may not have enough energy to keep blood sugar steady. Blood sugar can then fall. This is called hypoglycaemia.

Low blood sugar with few or no ketones is called hypoketotic hypoglycaemia.^6,18

An episode is a period when signs and symptoms start or become worse. During an episode, a person may:

vomit
become very sleepy
be unable to drink enough.^6,18

Liver (hepatic system)

Liver problems are common early symptoms in children with some FAODs.

The liver may become larger than usual. This is called an enlarged liver or hepatomegaly. Fat may also build up in the liver.

Blood tests may show that the liver is not working as expected. Blood tests may show changes in liver enzymes. These are substances that can help show how the liver is working. They may also show a build-up of ammonia. Ammonia is a waste product that the body usually removes. A build-up of ammonia in the blood is called hyperammonaemia.

Severe liver problems can affect how the brain works. This is called hepatic encephalopathy. It may cause confusion, poor focus, forgetfulness or changes in behaviour.^1,6,18

Muscles and movement (musculoskeletal system)

FAODs can affect the muscles used for movement. Problems that affect the muscles are sometimes called myopathy.

Young children may have weak or floppy muscles. This is called low muscle tone or hypotonia.

They may take longer to learn skills such as sitting, standing or walking. They may also have trouble walking or the way they walk changes. The way a person walks is called their gait.

Other muscle symptoms may include:

muscle weakness
muscle pain, called myalgia
muscle stiffness
long-lasting tiredness, called fatigue
trouble with long periods of activity, called exercise intolerance
fast muscle breakdown, called rhabdomyolysis.

Rhabdomyolysis can be serious. It may cause severe muscle pain, weakness, stiffness or dark urine. The urine may look brown, red or tea-coloured (myoglobinuria). Rhabdomyolysis can also harm the kidneys.^6,8,19

Heart and circulation (cardiovascular system)

Some FAODs can affect the heart muscle or its rhythm. Heart problems are more often seen in babies and young children. They can also occur at other ages.

The heart muscle may become weak. It may not pump blood as well as expected. This is called cardiomyopathy.

In severe cases, the heart may not pump enough blood around the body. This is called heart failure. It does not mean the heart has stopped.

The heart may beat too fast, too slowly or unevenly. This is called an arrhythmia. A person may notice a racing or uneven heartbeat. This is sometimes called heart palpitations. It may also cause chest discomfort.^1,6,8,18

Brain and nerves (nervous system)

Some FAODs can affect the brain and nerves.

Symptoms may include:

speech or learning problems
taking longer to learn skills, such as sitting, walking or talking. This is called developmental delay
shaking, staring or loss of awareness, which may be a seizure

Nerves in the hands or feet may also not work as expected. This is called peripheral neuropathy.

It may cause:

tingling or pins and needles
numbness
burning or sharp pain
weakness in the hands or feet.

These symptoms can make walking, picking things up, or feeling heat and cold harder. Nerve problems may get worse over time.^1,6,8,18

Eyes and vision (visual system)

The retina is the light-sensitive tissue at the back of the eye. Some FAODs can damage the retina. This is called retinopathy.

Vision changes may affect:

what a person sees straight ahead, called central vision
colour vision
vision in low light.

In some FAODs, vision problems may start later in life and may get worse over time.^1,6,8

Breathing and lungs (respiratory system)

Breathing problems are less common. They can occur in some severe FAODs. This includes some FAODs that affect newborns and babies.^6,20

How symptoms may change over time

Some signs and symptoms may be ongoing. Others may come and go. The pattern may also change over time.

What causes a FAOD?

FAODs are caused by changes in genes. These genes are found in nuclear DNA. Nuclear DNA is stored in a part of the cell called the nucleus.^2,3

Genes carry instructions for making proteins. Some proteins move fatty acids into the mitochondria. Others break fatty acids down or help pass the energy to other parts of the energy-making process.

You can read more in How the body uses fat for energy.

A gene change can affect a protein needed to move or break down fatty acids. This may reduce the energy made from fat or cause substances to build up in cells.^2,3,6

Different FAODs involve different genes. There is no single FAOD gene. The type of FAOD depends on the gene and protein affected.^2,3

How FAODs are passed down

Most FAODs follow a pattern called autosomal recessive inheritance. This pattern can affect people of any sex.^2,6

People usually have two copies of each gene. One copy comes from each biological parent.

A person usually has an FAOD when both copies of the same gene have a disease-causing change. The change in each copy may be the same or different.

A person with one gene change is called a carrier. Carriers usually do not have the FAOD. They may not know they carry the gene change.

This means a child can have a FAOD even when there is no known history of the condition in the family.^2,6 Inherited gene changes are not caused by anything a parent did or did not do.

When both biological parents carry a disease-causing change in the same FAOD gene, each pregnancy has:

a 1 in 4 chance that the child will have the FAOD
a 1 in 2 chance that the child will be a carrier
a 1 in 4 chance that the child will not have the FAOD and will not be a carrier.^2,6

The diagram below shows these chances for each pregnancy.

Figure 3. Autosomal recessive inheritance when both biological parents are carriers.

If only one biological parent is a carrier, and the other parent is confirmed not to be a carrier of a change in the same gene, the child will not usually have the FAOD. Each pregnancy has a 1 in 2 chance that the child will be a carrier and a 1 in 2 chance that the child will not be a carrier.

The diagram below shows these chances for each pregnancy.

Figure 4. Autosomal recessive inheritance when one biological parent is a carrier.

These chances apply to each pregnancy. The result of one pregnancy does not change the chances for the next. The diagrams do not predict the number, sex or order of children in a family.

Some rare FAODs may follow a different inheritance pattern.³ This overview does not describe every pattern. A genetic counsellor or metabolic specialist can explain the pattern for a specific FAOD.

Why people can be affected differently

The same FAOD can affect people in different ways. This can happen even when people have the same gene changes.

Symptoms may start at different ages. They may be mild or serious. Age, illness, fasting, physical activity and other genetic factors may also play a part.

A gene result cannot always show which symptoms a person will have or how serious they will be.^1,3,6

What this may mean for family members

Because FAODs are inherited, some brothers, sisters or other biological relatives may also have the condition or be carriers.

A genetic counsellor or metabolic specialist can explain a gene result, how the FAOD is passed down and what it may mean for a person and their family.^2,6

FAODs and the genes linked with them

This table lists common FAODs and related conditions. Different sources may group some conditions in different ways. The list may not include every very rare or newly identified FAOD.

Type of FAOD	Gene or genes	What is affected
PCD or CTD Primary carnitine deficiency, also called carnitine transporter deficiency	SLC22A5	Moving carnitine into cells
CPT1A deficiency Carnitine palmitoyltransferase 1A deficiency	CPT1A	Moving long-chain fatty acids into mitochondria
CACT deficiency or CACTD Carnitine-acylcarnitine translocase deficiency	SLC25A20	Moving fatty acids across the inner mitochondrial membrane
CPT II deficiency or CPT2 deficiency Carnitine palmitoyltransferase II deficiency	CPT2	Using long-chain fatty acids inside mitochondria
VLCAD deficiency or VLCADD Very long-chain acyl-CoA dehydrogenase deficiency	ACADVL	Breaking down very long-chain fatty acids
LCHAD deficiency or LCHADD Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HADHA	One step in breaking down long-chain fatty acids
TFP deficiency, TFPD or MTPD Mitochondrial trifunctional protein deficiency	HADHA or HADHB	Several steps in breaking down long-chain fatty acids
MCAD deficiency or MCADD Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	Breaking down medium-chain fatty acids
SCAD deficiency or SCADD Short-chain acyl-CoA dehydrogenase deficiency	ACADS	Breaking down short-chain fatty acids
HADH deficiency, SCHAD deficiency or M/SCHAD deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency	HADH	Breaking down some short- and medium-chain fatty acids
MADD or GA II Multiple acyl-CoA dehydrogenase deficiency, also called glutaric aciduria type II	ETFA, ETFB or ETFDH	Passing energy from several fat- and protein-breaking enzymes

Table 1. Common FAODs and the genes linked with them.^2,3,6,21

Note: Some conditions affect how fatty acids are moved into the mitochondria rather than how they are broken down. They are still often grouped with FAODs.³

Early diagnosis can help care start sooner. A FAOD may be found through newborn bloodspot screening, after symptoms appear or when a biological relative is diagnosed.

A diagnosis is based on several types of information. This may include symptoms, health and family history, a physical assessment and test results. More than one test may be needed.^1,6,21

Symptoms, health history and family history

A health professional may ask about:

what symptoms have happened
when the symptoms started
whether they appear during illness, fasting or physical activity
whether a biological relative has a FAOD or similar symptoms.

They may also review past test results. This may include a newborn screening result.^1,6,21

Physical assessment

A physical assessment is an examination of the body.

A health professional may check growth and the parts of the body linked with the symptoms. This may include the heart, liver, muscles, nerves, eyes or breathing.^1,6

Newborn bloodspot screening

In Australia, newborn bloodspot screening is offered in the first few days after birth. A midwife or nurse collects a few drops of blood from the baby’s heel onto a special card. The blood is tested for a range of rare conditions.²²

Australia’s newborn screening programs include several FAODs. Not every FAOD is included. The list of conditions can change as screening programs are updated.^3,22

Newborn screening is not a diagnosis. A result outside the expected range means that more tests are needed. It does not mean that the baby has a FAOD.^11,17,22

A normal newborn screening result does not rule out every FAOD. Some FAODs are not included in newborn bloodspot screening programs. In rare cases, a baby with a FAOD may have a normal screening result and be diagnosed later.^11,23

See the conditions included in newborn bloodspot screening in Australia.

Blood and urine tests

Blood and urine tests are sometimes called biochemical tests.

Blood tests may look at:

blood sugar and ketones
carnitine
a group of substances called acylcarnitines.

Acylcarnitines are linked with how the body moves and breaks down fatty acids. Their pattern can help point to a type of FAOD.

Urine tests may look for organic acids and acylglycines. These are substances that may build up when the body cannot use fat as expected.^1,21,24

Genetic testing

Genetic testing looks for changes in genes linked with FAODs. It often uses a blood sample. The result may help confirm the type of FAOD. It may also provide information for testing biological relatives. Genetic test results are read with the person’s symptoms and other test results.^1,21

Read Mito Foundation's Genetic testing and mito resource.

Other tests

Some people may have a test to check how well an enzyme works. Other tests may check parts of the body that are affected. This may include the heart, liver, muscles, brain, nerves, eyes or lungs. The tests used depend on the symptoms and the type of FAOD that is suspected.^1,6,24

A metabolic specialist or metabolic team may bring the results together and explain what they mean.

People with a FAOD are usually cared for by a team of health professionals. In Australia, specialist metabolic services often work with local doctors and other health professionals to coordinate care.

Health professionals commonly involved include:

General practitioner (GP): provides regular health care, arranges referrals and helps coordinate local care with the specialist team.
Paediatrician: supports the health and development of babies, children and young people. They may monitor growth and development and help coordinate care with the metabolic team.
Metabolic specialist: leads care for the FAOD. They may organise treatment, monitoring and plans for illness or emergencies.
Metabolic dietitian: works with the metabolic specialist to plan and monitor nutrition for the specific FAOD.
Genetic counsellor: explains genetic test results, how the FAOD is inherited and what the result may mean for biological relatives. They can also provide information and support with family planning decisions.

Other health professionals may be involved depending on the FAOD and the parts of the body affected. These may include a cardiologist, neurologist, ophthalmologist, physiotherapist or mental health professional.

Not everyone will need to see every type of health professional. The care team may also change over time.

For more information

Information to build your care team

Information to build your child’s care team

Living with a FAOD can affect daily routines in different ways. The impact depends on the type of FAOD, the person’s age, their symptoms and their individual care plan. Some people have few day-to-day effects. Others may need more planning around illness, food, activity or appointments.^6,19,24

Preparing for appointments

Some people have an illness or emergency plan from their metabolic team. More information is included under “Planning for urgent care”.

Appointments can take time and energy. Keeping health information together may make it easier to share current details with different members of the care team.

Read Mito Foundation’s Preparing for a medical appointment guide.

School, work and travel

A FAOD may affect energy, attendance or the ability to take part in some activities. Needs can change over time.

Schools and workplaces may be able to make practical changes. These could relate to appointments, breaks or other needs set out in the person’s care plan.

Travel may also need extra planning. This can include carrying health information and any medicines, dietary supplements or other supplies included in the person’s individual care or sick-day plan.

Read Mito Foundation’s School education and support information or Employee rights with mito resource.

Changes in energy and physical capacity

Energy and physical capacity can vary. Some people may experience fatigue, muscle pain or weakness. Illness or longer periods of physical activity can make symptoms more likely in some FAODs.^6,19,24

The person’s metabolic team can explain how illness and physical activity relate to their specific FAOD.

Emotional and practical impact

Living with a rare condition can affect emotions, family routines, caring roles, school, work and finances. Support needs may also change over time.

Some people find support through their GP, a counsellor or another mental health professional. Others may find it helpful to connect with people who have similar experiences.

Read Mito Foundation’s Mental health and mito information.

Individual care plans

Plans for food, fasting, physical activity, supplements, illness and health monitoring are not the same for every FAOD. They depend on the specific condition and the person. A metabolic specialist and metabolic dietitian can provide an individual plan.^6,19,24

Triheptanoin is a medicine approved in the United States for adults and children with a genetically confirmed long-chain fatty acid oxidation disorder, or LC-FAOD. It is used as a source of calories and fatty acids.^25,26

This medicine may be named in different ways:

Triheptanoin is the active ingredient.
Dojolvi® is the brand name used in the United States.
Research may also call it UX007 or C7 oil.

The active ingredient is the medicine itself. The brand name is the name used by the company that makes it.

Triheptanoin is an oil taken by mouth. It is a type of fat called a medium-chain triglyceride.²⁷

Read about Triheptanoin for LC-FAOD

A metabolic specialist can provide more information about triheptanoin and how the available evidence may relate to a specific LC-FAOD.

Mito Foundation provides information to help people affected by mito and FAODs understand clinical trials and how to find opportunities that may be relevant to them.

Clinical trials help researchers test new ways to prevent, diagnose, treat and manage mito. Some trials test whether a treatment is safe and whether it may help people.

Other clinical studies may look at symptoms, diagnosis, genetics, quality of life, or how a condition affects people over time.

Clinical trials are carefully planned. The therapies being studied may be at different stages. Trials may not be available for every type of mito, and not every trial will be right for you. Some trials are only open to people with a confirmed genetic diagnosis, specific symptoms, a certain age range, or the ability to attend study appointments.

Mito Foundation’s emerging therapies information explains therapies in development, how clinical trials work, and what you may wish to consider before taking part. You can also use the Therapy Finder to explore therapies in development and see what may be relevant to you.

Learn more about taking part in clinical trials Use the Therapy Finder

Staying informed

One way to hear about opportunities to take part in clinical trials is to join the Mito Registry.

The Mito Registry helps connect people with research opportunities that may be relevant to them. It also helps Mito Foundation understand how many people in Australia are affected by different types of mito.

This information can help support future research, services and advocacy.

Join the Mito Registry

How Mito Foundation can support you

People living with FAODs in Australia, along with their families and carers, can contact Mito Foundation for information, support and connection. This may include:

More information about specific FAODs

RARE Portal (Australian)

The Rare Awareness Rare Education Portal, or RARE Portal, is an Australian rare disease information website developed by Rare Voices Australia.

Its List of Mitochondrial Diseases includes links to information about some FAODs and related conditions. The page was developed in consultation with Mito Foundation. More individual condition pages may be added over time, and the list may not include every FAOD or mitochondrial disease.

The RARE Portal also provides Australian information about rare disease services, genetic services, disability support, mental health and community support. Information about an individual condition does not replace advice from a metabolic care team.

Visit the RARE Portal’s List of Mitochondrial Diseases.

MitoAction (US)

MitoAction provides information about specific FAODs. Information about health care and services may differ in Australia.

Read MitoAction’s Types of FAOD page.

FOD Family Support Group (US)

The FOD Family Support Group is a volunteer organisation based in the United States. It connects people and families affected by fatty acid oxidation disorders around the world. Its website includes a family welcome kit, family stories, newsletters, practical information, medical updates and support resources. It also provides grief and bereavement support.

Information on this website is written for an international audience. Information about newborn screening, emergency care, treatments, medicines, health services and access to care may differ in Australia. Medical information from the website does not replace advice from an Australian metabolic care team.

Visit the FOD Family Support Group website.

Support groups

Mito Support Community – Facebook group

People living with FAODs in Australia, along with their families and carers, are welcome to join Mito Foundation’s private Facebook support group. The group includes people affected by many different conditions, so there may not always be someone with the same FAOD.

As of July 2026, Mito Foundation is not aware of an active Australian support group dedicated only to FAODs. Some international groups are listed below.

Global FAOD Facebook groups

FOD (Fatty Oxidation Disorders) Family Support Group. International group covering MCAD, VLCAD, LCHAD, SCAD, CPT1 and CPT2, TFP, MADD/GA2, primary carnitine deficiency, CACT deficiency and other FAODs.
Fatty Acid Oxidation Disorder (FAOD) Support Group
MitoAction FAOD Families

MCAD deficiency

VLCAD deficiency

LCHAD and long-chain FAODs

CPT2 deficiency

What Can You Do Despite CPT Type II (CPT2).

Mito Foundation support services

Helpline

Call Helpine for general advice, assistance in seeking a referral or more information on Mito Foundation support services.

Contact Helpline

Events

Mito Foundation events bring together people impacted by mitochondrial disease (mito).

Learn more about events

NDIS support

Access the NDIS Navigation Service (NNS) for resources, education and 1:1 guidance on the NDIS.

Learn more about NNS

References

Disclaimer: Resources provided by the Australian Mitochondrial Disease Foundation Limited (Mito Foundation), offers general information and is not a substitute for medical advice. It is essential to assess the suitability of the content for your individual circumstances and make decisions based on your medical condition. The information’s accuracy is subject to change, and we do not guarantee ongoing currency or availability. While efforts are made to ensure accuracy, Mito Foundation is not obligated to provide updated information. The copyright for this document and its content belongs to, or is licensed to, Mito Foundation, and reproduction without prior written consent is prohibited.

Acknowledgement: Mito Foundation acknowledges the valuable contributions of our reviewers, we thank Dr Megan Ball, Metabolic Consultant for here review, as well as members of the mito community resource review panel.

Author: Mito Foundation
Version: 1
Date published: Wednesday 30 September 2026

What are FAODs? Causes, symptoms and support