Propionic acidemia

Propionic acidemia is a lifelong condition. However, early diagnosis and following a strict low-protein diet can lessen the symptoms of propionic acidemia.

If your child has propionic acidemia, it is likely you and your partner are "carriers" people who do not have propionic acidemia themselves, but can pass it on to their children. Your siblings may also be carriers. They can speak to a genetic counselor about their chances of having a child with propionic acidemia.

There are thousands of Americans with propionic acidemia. You can find them through propionic acidemia suppot groups, your local metabolic center, or even facebook.

Baby’s First Test is a great resource with a lot of helpful information and can be found here[link url=" http://www.babysfirsttest.org/newborn-screening/conditions/propionic-acidemia#” target=”_blank”>Baby’s First Test A genetic counselor can help answer any other questions you may have. To find a genetic counselor near you, go to the national society of genetic counselor’s website at Find a Genetic Counselor

Usually, people with propionic acidemia begin to show signs and symptoms such as poor feeding and lethargy in the first few days of life. There is a less-common form of propionic acidemia when first symptoms appear during childhood. Children with the late-onset form of PA can have the same symptoms (such as loss of appetite and lethargy), but are often sporadic, coming and going over time.

If your child has propionic acidemia, they should get regular checkups with a pediatric metabolic specialist and a nutritionist or dietician. Your child may also be referred to a pediatric neurologist to help with any seizures or movement disorders. Your child may also need to see a cardiologist to check their heart and a dermatologist to examine their skin.

Children with propionic acidemia can hvae cardiomyopathy (disease of the heart muscle) and heart rhythm problems, so it is important they follow with a cardiologist. Children with PA may also have developmental delays, frequent infections, inflammation of the pancreas, vision problems and low bone density (osteoporosis). Your child’s pediatrician can help manage these health issues if they arise.

Propionic acidemia is usually abbreviated as PA.

Children with PA can have different outcomes depending on when they begin treatment and how strictly they follow the recommended low-protein diet. Babies who begin treatment early can lead healthy lives, although they may have some developmental delay and need extra help in school. Babies who are undiagnosed or do not follow a strict low-protein diet can have seizures, lethargy and may not survive past infancy.

Propionic acidemia, or PA is a genetic condition where your body cannot break down some types of proteins and fats. People with PA cannot properly break down their food into energy, so the proteins and fats can build up, causing significant health problems. This can cause intellectual disability and serious health problems if not treated. Early diagnosis and a strict diet can help lessen these symptoms.

Testing positive on the newborn screen does not mean you baby has propionic acidemia. If your child tested positive, your doctor will contact you about additional testing to confirm or rule out a diagnosis of propionic acidemia. This may include taking samples of your child’s blood or urine.

Propionic acidemia is a genetic disorder caused by changes in the PCCA or PCCB genes.

If there are no pediatric metabolic specialists in your area, you should tell your pediatrician about your child’s diagnosis. Your doctor should know about your child’s diet and any concerns you may have about their development. If your child has vomiting, diarrhea or fever for more than 12 hours, contact your pediatrician or the emergency department immediately.

Usually, babies with propionic acidemia begin to show symptoms a few days after birth. These include

If you have a child with propionic acidemia, your other children should be tested for propionic acidemia as well. It is important to diagnose propionic acidemia as early as possible, to begin treatment and help your child grow healthy and well.

Your child will have regular visits to the pediatrician or metabolic specialist. The doctor will review your child’s diet with you and will take blood and urine samples to check protein levels. They will also do a general exam to make sure your child is growing healthy and well.

Children with propionic acidemia should have a low-protein diet. Examples of foods which should be avoided because they are high in protein:

People with propionic acidemia cannot break down the proteins and fats in their body, which instead gather in certain tissues of the body, affecting brain growth and causing movement problems, intellectual disability and severe health problems if left untreated. Treatment for propionic acidemia is to limit the amount of proteins your child eats, and to make sure they eat frequently. Your pediatrician may also recommend your child take supplements such as biotin or carnitine. Your doctor may suggest you speak with a nutritionist to help your child have a healthy diet. Children with propionic acidemia who follow a strict low-protein diet from infancy usually grow up healthy and well, although they often have developmental delays or learning disabilities even with proper treatment. Throughout their lifetime infections, fasting and stress can trigger or worsen symptoms of PA. In severe cases, children with propionic acidemia may receive a liver transplant.

Propionic acidemia is on the newborn screen in all 50 states.

As of of October 2016, there are 3 clinical trials recruiting patients with propionic acidemia in the United States. To learn more about these trials ask your doctor or visit clinicaltrials.gov.

Currently there is no cure for propionic acidemia, although early treatment and therapies can help lessen many of the symptoms.

Propionic acidemia affects about 1 in every 100,000 people in the United States. Propionic acidemia is more common in Japan, Amish communities, Saudi Arabia and among people of Inuit descent in Greenland.

People with propionic acidemia should not take certain medications. Check with your child’s doctor before beginning any new medications, dietary changes or treatments.

Children with propionic acidemia should eat frequently, as periods of fasting can trigger or worsen symptoms of PA. Infants will need to eat during the night, you may even have to wake your child up to eat. As children get older, they can go slightly longer between meals, but they still need to eat frequently. Your doctor can help you create a schedule to feed your child.

Propionic acidemia (PA) is an autosomal recessive disorder. This means people with PA have genetic changes on both copies of their PCCA or PCCB genes. If you have a child with PA, that means both you and your partner are "carriers": people who do not have PA themselves, but can pass it on to their children. When two carriers of PA have children, there is a 1 in 4, or 25% chance for each pregnancy to have PA, and a 3 in 4, or 75% chance the child will not have PA.

It can be hard to deal with a new diagnosis of propionic acidemia in the family. However it is also important information for the rest of your family. A genetic counselor can help you find the best way to share this information with your family

Check if your local children’s hospital has a metabolic unit. These doctors have experience treating children with propionic acidemia and other metabolic disorders. Your pediatrician may be able to help refer you to specialists in your area.

Typically, the PCCA and PCCB genes tell our body how to break down certain types of proteins and fats. When there is a change, or mutation in these genes, the body cannot break down these proteins and fats as well. Instead of providing energy, the proteins and fats gather and build up in the body. This leads to the signs and symptoms of propionic acidemia.

In the United States, about 1 in every 100,000 people has a diagnosis of propionic acidemia (PA). Throughout the world, about 1 in every 50,000 people is affected with PA. PA is more common in certain populations and less common in others

Almost all insurances have full coverage for newborn screening. If you have questions about your coverage, check with your insurance provider.

People with propionic acidemia (PA) cannot break down certain types of proteins in food. Eating these foods can trigger or worsen the symptoms of propionic acidemia. Illness, infections, certain medications, stress and fasting can also exacerbate the symptoms of propionic acidemia.

If the parents’ genetic status for propionic acidemia is known, it is possible to test a pregnancy for propionic acidemia by amniocentesis. Amniocentesis uses a needle guided by ultrasound to find a pocket of fluid away from the baby to take some cells for examination. Looking at these cells will allow the laboratory to determine if the pregnancy has propionic acidemia or not.

Only changes in the PCCA and PCCB genes can cause propionic acidemia. We do not choose what genes our child gets, there is no way to cause or prevent propionic acidemia.

Propionic acidemia can also be known as:

Propionic acidemia is a type of acidemia, a disorder when the blood is more acidic than normal. A common cause of acidemia is sepsis, or infection of the blood. There are many types of acidemias, a doctor can order blood and urine tests to tell the difference between propionic acidemia and other types of acidemias.

There are thousands of people in the United States and throughout the world with propionic acidemia. There are many helpful support groups, including:

Most commonly, people with PA show symptoms of the disorder in the first few days of life. This is known as the neonatal-onset form of PA. There is a less common, late-onset form of PA where the first signs and symptoms don’t show until childhood.