Children and Youth with Special Health Needs (CYSHN)
Carnitine Palmitoyltransferase Deficiency, Type II (CPT-II Deficiency)
On this page...
- What is CPT-II deficiency?
- What causes CPT-II deficiency?
- What causes the CPT-II enzyme to be absent or not working correctly?
- How is CPT-II deficiency inherited?
- Is there genetic testing available?
- What other testing is available?
- Can you test during pregnancy?
- Can other members of the family have CPT-II deficiency or be carriers?
- Can other family members be tested?
- How many people have CPT-II deficiency?
- Does CPT-II deficiency happen more often in a certain ethnic group?
- Does CPT-II deficiency go by any other names?
- What is the treatment for CPT-II deficiency?
- What happens when CPT-IIdeficiency is treated?
- If CPT-II deficiency is not treated, what problems occur?
This fact sheet contains general information about CPT-II deficiency. Every child is different and some of this information may not apply to your child specifically. Not all is known about CPT-II deficiency and, at present, there is no standard treatment plan. Certain treatments may be recommended for some children but not others. Children with CPT-II deficiency should be followed by a metabolic doctor in addition to their primary doctor.
What is CPT-II deficiency?
CPT-II deficiency stands for “carnitine palmitoyltransferase deficiency type II”. It is one type of fatty acid oxidation disorder. People with CPT-II deficiency have problems breaking down fat into energy for the body.
Fatty Acid Oxidation Disorders:
Fatty acid oxidation disorders (FAODs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly.
A number of enzymes are needed to break down fats in the body (a process called fatty acid oxidation). Problems with any of these enzymes can cause a fatty acid oxidation disorder. People with FAODs cannot properly break down fat from either the food they eat or from fat stored in their bodies.
The symptoms and treatment vary between different FAODs. They can also vary from person to person with the same FAOD. See the fact sheets for each specific FAOD.
FAODs are inherited in an autosomal recessive manner and affect both males and females.
What causes CPT-II deficiency?
CPT-II deficiency occurs when an enzyme, called “carnitine palmitoyltransferase II” (CPT-II) is either missing or not working properly. This enzyme’s job is to help change certain fats in the food we eat into energy. It also helps break down fat already stored in the body.
Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose . Our bodies rely on fat when we don’t eat for a stretch of time – like when we miss a meal or when we sleep.
When the CPT-II enzyme is missing or not working, the body cannot use fat for energy, and must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycemia, and to the build up of harmful substances in the blood.
Genes tell the body to make various enzymes. People with CPT-II deficiency have a pair of genes that do not work correctly. Because of the changes in this pair of genes, the CPT-II enzyme either does not work properly or is not made at all.
How is CPT-II deficiency inherited?
CPT-II deficiency is inherited in an autosomal recessive manner. It affects both boys and girls equally.
Everyone has a pair of genes that make the CPT-II enzyme. In children with CPT-II deficiency, neither of these genes works correctly. These children inherit one non-working gene for the condition from each parent.
Parents of children with CPT-II deficiency rarely have the disorder. Instead, each parent has a single non-working gene for CPT-II deficiency. They are called carriers. Carriers do not have the condition because the other gene of this pair is working correctly.
When both parents are carriers, there is a 25% chance in each pregnancy for the child to have CPT-II deficiency. There is a 50% chance for the child to be a carrier, just like the parents. And, there is a 25% chance for the child to have two working genes.
Genetic counseling is available to families who have children with CPT-II deficiency. Genetic counselors can answer your questions about how the condition is inherited, choices during future pregnancies, and how to test other family members. Ask your doctor about a referral to a genetic counselor.
Is there genetic testing available?
Genetic testing for CPT-II deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause the condition. In some children, both gene changes can be found. However, in other children, neither or only one of the two gene changes can be found, even though we know they are present.
DNA testing is not necessary to diagnose your child. It can be helpful for carrier testing or prenatal diagnosis, discussed below.
What other testing is available?
CPT-II deficiency can be confirmed by a special enzyme test on a skin sample. Talk to your doctor or your genetic counselor if you have questions about testing for CPT-II deficiency.
Can you test during pregnancy?
If both gene changes have been found in the child with CPT-II deficiency, DNA testing can be done during future pregnancies. The sample needed for this test is obtained by either CVS or amniocentesis. CVS stands for Chorionic Villus Sampling, which is a special test done early in pregnancy. During CVS, a small sample of the placenta is removed for genetic testing.
If DNA testing would not be helpful, testing during pregnancy can be done by an enzyme test on cells from the fetus. Again, the sample needed for this test is obtained by either CVS or amniocentesis.
Parents may choose to have testing during pregnancy or wait until birth to have the baby tested. A genetic counselor can talk to you about your choices and answer questions about prenatal testing or testing your baby after birth.
Can other members of the family have CPT-II deficiency or be carriers?
Having CPT-II deficiency
The brothers and sisters of a baby with CPT-II deficiency have a chance of being affected even if they haven't had symptoms. Finding out whether other children in the family have this condition may be important because early treatment may prevent serious health problems. Talk to your doctor or genetic counselor about testing your other children for CPT-II deficiency.
CPT-II deficiency carriers
Brothers and sisters who do not have CPT-II deficiency still have a chance to be carriers like their parents. Except in special cases, carrier testing should only be done in people over 18 years of age.
Each of the parents' brothers and sisters has a 50% chance to be a carrier. It is important for other family members to be told that they could be carriers. There is a small chance they are also at risk to have children with CPT-II deficiency.
When both parents are carriers for CPT-II deficiency, newborn screening results are not sufficient to rule out the condition in a newborn baby. In this case, special diagnostic testing should be done in addition to newborn screening.
During pregnancy, women carrying fetuses with CPT-II may be at increased risk to develop serious medical problems. Some women carrying fetuses with Fatty Acid Oxidation Disorders have developed:
- excessive vomiting
- abdominal pain
- high blood pressure
- abnormal fat storage in the liver
- severe bleeding
All women with a family history of CPT-II should share this information with their obstetricians and other health care providers before and during any future pregnancies. Knowing about these risks allows better medical care and early treatment if needed.
Can other family members be tested?
Brothers and sisters of an affected child can be tested for CPT-II deficiency using either a DNA test or a special enzyme test.
If both gene changes have been found in the child with CPT-II deficiency, other family members can have DNA testing to see if they are carriers.
If DNA testing would not be helpful, other methods of carrier testing may be available. Your metabolic doctor or genetic counselor can answer your questions about carrier testing.
How many people have CPT-II deficiency?
CPT-II deficiency is rare. The actual incidence is unknown.
Does CPT-II deficiency happen more often in a certain ethnic group?
CPT-II deficiency does not happen more often in any specific race, ethnic group, geographical area or country.
Does CPT-II deficiency go by any other names?
CPT-II deficiency is sometimes also called:
- CPT-2 deficiency
What is the treatment for CPT-II deficiency?
Your baby's primary doctor may work with a metabolic doctor and a dietician to care for your child.
Certain treatments may be advised for some children but not others. When necessary, treatment is usually needed throughout life. The following are treatments sometimes recommended for children with this condition:
Avoid going a long time without food
Your metabolic doctor will continue to advise you on how often your child should eat as he or she gets older. When they are well, many teens and adults with CPT-II deficiency can go without food for up to 12 hours without problems. The other treatments usually need to be continued throughout life.
Ask your doctor whether your child needs to have any changes in his or her diet.
MCT oil and L-carnitine
Some children and adults may be helped by taking L-carnitine. This is a safe and natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. Your doctor will decide whether or not your child needs L-carnitine. Unless you are advised otherwise, use only L-carnitine prescribed by your doctor. Do not use any supplements without checking with your doctor.
Call your doctor at the start of any illness:
Babies and children with CPT-II deficiency need to eat extra starchy food and drink more fluids during any illness - even if they may not feel hungry – or they could have a metabolic crisis. Children who are sick often don’t want to eat. If they won’t or can’t eat, they may need to be treated in the hospital to prevent a metabolic crisis. Ask your metabolic doctor if you should carry a special travel letter with medical instructions for your child’s care.
Avoid long periods of exercise and avoid getting cold
If muscle symptoms occur, prompt treatment is needed to prevent kidney damage. Children or adults with muscle symptoms should:
To help prevent muscle symptoms:
What happens when CPT-II deficiency is treated?
Treatment can help prevent or control symptoms in some children with CPT-II deficiency. Children who are treated early may be able to live healthy lives with typical growth and development. Some children do continue to have episodes of metabolic crisis and other health problems despite treatment.When treated, adults with the classic form of CPT-II deficiency are expected to live healthy lives.
If CPT-II deficiency is not treated, what problems occur?
A small number of babies with CPT-II deficiency show symptoms shortly after birth. Others don’t start showing the effects until later in infancy. Most people do not have symptoms until their teen years or early adulthood. This is called the “classic” form of CPT-II deficiency.
Babies and children who show early signs of CPT-II deficiency have episodes of illness called metabolic crisis. Some of the first signs of a metabolic crisis are:
- extreme sleepiness
- behavior changes
- irritable mood
- poor appetite
Other symptoms then follow:
If a metabolic crisis is not treated, a child with CPT-II deficiency can develop:
- breathing problems
- coma, sometimes leading to death
CPT-II deficiency in newborns
Rarely, a baby with CPT-deficiency shows symptoms in the newborn period. Newborns with symptoms usually have many episodes of metabolic crisis. Other health effects in newborns can be:
- enlarged heart with irregular heartbeat
- enlarged liver
- muscle weakness
Some babies are also born with:
- kidney cysts
- defects of the brain
Without treatment, babies who have symptoms in the newborn period usually die very early in life.
CPT-II deficiency in infants and children
A small number of children with CPT-II deficiency start showing symptoms in late infancy or early childhood. If untreated, some of the effects can be:
- repeated metabolic crises
- learning problems
- delays in walking and other motor skills
- liver problems
- muscle weakness
- enlarged heart and irregular heartbeat
- kidney problems
Without treatment, many children with CPT-II deficiency die early in life.
Symptoms of metabolic crisis in babies and children with CPT-II deficiency often happen after having nothing to eat for more than a few hours. Symptoms are also more likely when a baby or child with CPT-II deficiency gets sick or has an infection.
Some children with CPT-II deficiency have never had a metabolic crisis or other related health problems and are only found to be affected after a brother or sister has been diagnosed.
CPT-II deficiency in adults
Most people with CPT-II deficiency have the adult form. This is also called “classic” CPT-II deficiency, or the “muscle” form.
Symptoms of classic CPT-II deficiency usually start between 15 and 30 years of age. Periods of muscle weakness are common. Breakdown of muscle fibers can happen. Symptoms usually happen during heavy exercise or after going without food for a long period of time. Signs of muscle breakdown include:
- muscle aches
- muscle weakness
- reddish-brown color to the urine
Adults who are not treated can develop kidney failure.
Classic CPT-II deficiency does not cause metabolic crises or heart problems.
Where can I find more information?
National Library of Medicine Genetics Home Reference: Carnitine Palmitoyltransferase II Deficiency http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency
Fatty Oxidation Disorders (FOD) Family Support Group
Organic Acidemia Association
United Mitochondrial Disease Foundation
CLIMB (Children Living with Inherited Metabolic Disorders)
Minnesota Family Support for Fatty Acid Oxidation Disorder (FAOD) - Contact: firstname.lastname@example.org
Medically Prescribed Formula: a table that provides a list of commonly prescribed medical foods and formulas and /or medication for this disorder.
For additional genetics information and resources:
- Genetic Alliance
- Region 4 Genetics Collaborative
- Partnering with your Doctor The Medical Home Approach: A guide for families with children who have genetic conditions - The Guide is intended to be a user-friendly, hands-on tool to support families of children who have genetic conditions to move forward in obtaining and providing a medical home for their children. The guide provides definitions, examples and tools for families to use when working with the doctor to develop a medical home.
More help available from Children and Youth with Special Health Needs (CYSHN):
- Resources: Financial and Other
- Early Childhood Intervention
- Resources for Children and Families
- Youth and Young Adults - Planning for the Future
- Emergency Planning
- Medical Home
We would like to acknowledge the Star G Project. The information on the fact sheet was obtained from the Star G Project. For the most up-to-date information on the disorder please visit their web site at http://www.newbornscreening.info. Each fact sheet was extensively reviewed by family support groups, metabolic specialists across the country and the Star G steering committee.
THIS INFORMATION DOES NOT PROVIDE MEDICAL ADVICE. All content, including text, graphics, images and information are for general informational purposes only. You are encouraged to confer with your doctor or other health care professional with regard to information contained on this information sheet. After reading this information sheet, you are encouraged to review the information carefully with your doctor or other healthcare provider. The Content is not intended to be a substitute for professional medical advice, diagnosis or treatment. NEVER DISREGARD PROFESSIONAL MEDICAL ADVICE, OR DELAY IN SEEKING IT, BECAUSE OF SOMETHING YOU HAVE READ ON THIS INFORMATION SHEET.
|Updated Wednesday, 01-Aug-2012 13:55:02 CDT|