Biotinidase deficiency (BIOT)
Printable condition information (PDF)
Sounds like
bye-oh-tin-i-days de-fish-in-sea.
What is Biotinidase (BIOT) deficiency?
BIOT deficiency is a metabolic condition that affects your body’s ability to
recycle a vitamin called biotin. Biotin plays many important roles in your body. For example, biotin helps break down protein. A deficiency, or not enough of biotin can cause serious health problems.
How is BIOT deficiency treated?
Your doctor at the metabolic clinic may suggest biotin supplements. The healthcare team will help you care for your baby. They’ll give you detailed instructions about how to manage your baby’s health.
If you have concerns about your baby at any time, follow instructions from your family doctor and the metabolic specialist.
To learn more about BIOT deficiency, go to
Baby's First Test
Always be careful when you search for information about BIOT deficiency on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Carnitine uptake defect (CUD)
Printable condition information (PDF)
Sounds like
car-ne-teen uptake defect.
What is Carnitine uptake (CUD) defect?
CUD is a metabolic condition that affects how your body uses
fat from the food you eat to store and make energy. This includes breastmilk and regular formula. Your body breaks down fat into smaller parts called fatty acids. Fatty acids are an important source of energy during times when you don’t eat or are ill. With CUD, a substance called carnitine can’t be moved into your body’s cells. Your body can’t use fat to make energy and control sugar. This can cause serious health problems.
How is CUD treated?
Your doctor at the metabolic clinic will prescribe a carnitine supplement. The healthcare team will help you care for your baby. They’ll give you detailed instructions about how to manage your baby’s health. Most babies with CUD have no health problems.
To learn more about CUD, go to:
Baby's First Test
Always be careful when you search for information about CUD on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Citrullinemia (CIT)
Printable condition information (PDF)
Sounds like
sit-roo-lyn-e-mia.
What is Citrullinemia (CIT)?
CIT is a metabolic condition that affects how your body uses
protein from the food you eat to make energy. This includes breastmilk and regular formula. With CIT, your body can’t safely break down certain building blocks of protein called amino acids. This causes a buildup of a chemical called ammonia in your body and can cause serious health problems.
How is CIT treated?
Babies with CIT usually go on a low protein diet and drink a special formula. They usually need special medicines to help lower ammonia levels. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how to manage your baby’s health. .
To learn more about CIT, go to:
Baby's First Test
Always be careful when you search for information about CIT on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Congenital adrenal hyperplasia (CAH)
Printable condition information (PDF)
Sounds like
con-gen-it-al a-dree-null high-per-play-z-a.
What is congenital adrenal hyperplasia (CAH)?
CAH is an endocrine condition that affects how your body makes special chemicals called hormones. Your adrenal glands are a pair of walnut-shaped organs that sit on top of each kidney. Adrenal glands make various hormones. These hormones control how your body reacts to stress and how it controls salts in your body. With CAH, your adrenal glands make too many androgen hormones. They also can’t make enough of the hormone cortisol and sometimes the hormone aldosterone. This can cause problems for health, growth, and development.
-
Congenital means born with
-
Hyper means too much
What are some early signs of CAH?
Without treatment, your baby may:
- have poor feeding
- be very sleepy (hard to wake for feeding)
- have a loss of energy
How is CAH treated?
Babies affected by CAH will need to take a hormone called cortisol as a medicine. In most cases, your baby will also need to take another hormone called aldosterone as a medicine as well. A specialized healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about CAH, go to:
Always be careful when you search for information about CAH on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Congenital hypothyroidism (CH)
Printable condition information (PDF)
Sounds like
con-gen-it-al hype-o-thigh-roid-ism.
What is congenital hypothyroidism (CH)?
CH is an endocrine condition that affects how your body makes special chemicals called hormones. Your thyroid gland is a butterfly-shaped organ in the front of the neck. It makes thyroid hormones. These hormones are needed for various processes in your body and help to keep them working properly. With CH, the thyroid gland can’t make enough thyroid hormone. This can cause problems for health, growth, and development.
-
Congenital means born with
-
Hypo means too low
What causes CH?
In most cases, the baby’s thyroid gland didn’t form fully or isn’t located in its usual place in the neck. Less often, it’s due to a change in a gene inherited from both parents. In this case, the thyroid gland has formed but can’t make thyroid hormone.
How is CH treated?
If the thyroid hormone level is too low, your baby will need to take thyroid hormone as a medicine. Your baby may also need to avoid certain foods so the medicine can be absorbed. A specialized healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about CH, go to:
Always be careful when you search for information about CH on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Cystic fibrosis (CF)
Printable condition information (PDF)
Sounds like
sis-tic fy-bro-sis.
What is Cystic fibrosis (CF)?
CF is a condition that causes thick, sticky mucous to build up in the lungs, digestive tract, and other areas of the body. This causes problems with how your baby breathes and digests food.
What causes CF?
CF is a genetic condition. Babies born with CF inherit a gene from both parents that has a change in that gene. If only one gene gets passed down, the person is considered a
carrier of the CF gene and doesn’t have the condition. CF is not caused by anything that happened during pregnancy.
There may be no signs of CF at birth. It is important to remember that many of these treatable conditions can’t be seen by looking at your baby.
What does a positive screen result for CF mean?
Sometimes a baby needs to have more tests for CF. This doesn’t mean your baby has CF. It means your baby will need more tests to find out if they have CF. In many cases, babies are carriers of the CF gene and don’t have the condition.
What can I expect with more testing?
A test called
sweat chloride is used to find out if your baby has CF. This test measures the amount of sodium and chloride in sweat. People with CF have high amounts of sodium and chloride in their sweat. The test takes 20 to 40 minutes to complete. The results are usually ready in 3 to 4 hours. Getting ready for this test includes making sure your baby is well hydrated before the test. You also want to be sure not to put any creams or lotion on your baby’s skin on the day of the test. Bring a heavy blanket to help your baby keep warm during the test. A nurse will explain what will happen, and they’ll answer any questions you may have before, during, and after the test.
What are some early signs of CF?
Your baby may:
- find it hard to feed well and gain weight
- have large, greasy, and smelly stools
How is CF treated?
Every person with CF is unique or different. A team of cystic fibrosis specialists will work with you to come up with a care plan for your baby.
Taking care of your baby, if they have CF,
may include:
- help to clear mucus from the lungs
- the use of digestive enzymes
- medicines for the lungs
- vitamins
- physical therapy
To learn more about CF and more tests, please visit:
Galactosemia - Classic (GALT)
Printable condition information (PDF)
Sounds like
gah-lac-toe-see-me-ah.
What is Galactosemia - Classic (GALT)
GALT is a metabolic condition that affects how your body uses certain foods you eat to make energy. This includes breastmilk and regular formula. With GALT, your body can’t use a sugar called galactose. Galactose then builds up in your body and can cause serious health problems.
What are some early signs of GALT?
Your baby may:
- have poor feeding
- vomit (more than usual spit-up after feeding)
- have jaundice (skin looks yellow)
How is GALT treated?
Babies with GALT need to avoid foods with galactose and drink a special formula. To make sure babies get enough nutrients, they may need to take vitamin supplements. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about GALT, go to:
Always be careful when you search for information about GALT on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Glutaric acidemia type 1 (GA1)
Printable condition information (PDF)
Sounds like
glue-tare-ic acid-e-mia.
What is Glutaric acidemia Type 1 (GA1)?
GA1 is a metabolic condition that affects how the body uses
protein from the food you eat to make energy. This includes breastmilk and regular formula. With GA1, your body can’t break down building blocks of protein called lysine, hydroxylysine (hi-drox-y-lie-scene), and tryptophan (trip-toe-fan). These then build up in your body and can cause serious health problems.
How is GA1 treated?
Babies with GA1 may go on a low-protein diet and a special formula. Special medicines are also needed. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how to manage your baby’s health.
To learn more about GA1, go to:
Baby's First Test
Always be careful when you search for information about GA1 on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
3-Hydroxy-3-methylglutaryl-CoA lyase (HMG) deficiency
Printable condition information (PDF)
Sounds like
3-high-drox-y-3-meth-ill-glue-tar-ill-co-a lie-ase de-fish-in-sea.
What is 3-Hydroxy-3-methylglutaryl-CoA lyase (HMG) deficiency?
HMG deficiency is a metabolic condition that affects how your body uses protein and fat from the food you eat to
make and store energy. This includes breastmilk and regular formula. With a deficiency, or not enough of HMG your body can’t break down a building block of protein called leucine to make energy. Leucine and other substances then build up in the body and can cause health problems.
How is HMG deficiency treated?
Babies with HMG deficiency may go on a low-protein diet and special formula. Babies need to be fed often. They may also need special medicines. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about HMG, go to:
Baby's First Test
Always be careful when you search for information about HMG on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Isovaleric acidemia (IVA)
Printable condition information (PDF)
Sounds like
i-so-val-air-ic acid-e-mia.
What is Isovaleric acidemia (IVA)?
IVA is a metabolic condition that affects how your body uses
protein from the food you eat to make energy. This includes breastmilk and regular formula. With IVA, your body can’t break down a building block of protein called leucine. Certain substances then build up in your body and can cause serious health problems.
How is IVA treated?
Babies with IVA may need to go on a low-protein diet and drink a special formula. They may also need special medicines. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about IVA, go to:
Baby's First Test
Always be careful when you search for information about IVA on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
Printable condition information (PDF)
Sounds like
long chain 3-high-drox-y-a-sea-til-co-a de-high-draw-gen-ase de-fish-in-sea.
What is Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency?
LCHAD deficiency is a metabolic condition that affects how your body uses
fat from the food you eat to make energy. This includes breastmilk and regular formula. Your body breaks down fat into smaller parts called fatty acids. With a deficiency, or not enough of LCHAD your body can’t use ‘long’ sized fatty acids to make energy and control sugar. The fatty acids build up in your body and can cause serious health problems.
What are some early signs of LCHAD deficiency?
Your baby may:
- be very sleepy (hard to wake for feedings)
- vomit (more than usual spit-up after feeding)
How is LCHAD deficiency treated?
Babies with LCHAD deficiency usually go on a low-fat diet and drink a special formula. Your baby will need to be fed often. They may also need special medicines. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about LCHAD, go to:
Baby's First Test
Always be careful when you search for information about LCHAD on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Maple syrup urine disease (MSUD)
Printable condition information (PDF)
What is Maple syrup urine disease (MSUD)?
MSUD is a metabolic condition that affects how your body uses
protein from the food you eat to make energy. This includes breastmilk and regular formula. With MSUD your body can’t break down 3 building blocks of protein called leucine, isoleucine, and valine. These proteins then build up in your body and can cause serious health problems.
Babies with this condition often have urine that smells like maple syrup.
What are some early signs of MSUD?
Your baby may:
- have poor feeding
- have urine that smells like maple syrup
- be very sleepy (hard to wake for feedings)
How is MSUD treated?
Babies with MSUD usually go on a low-protein diet and drink a special formula. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about MSUD, go to:
Baby's First Test
Always be careful when you search for information about MSUD on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
Printable condition information (PDF)
Sounds like
medium chain a-sea-til-co-a de-high-draw-gen-ase de-fish-in-sea.
What is Medium chain acyl-CoA dehydrogenase (MCAD) deficiency?
MCAD deficiency is a metabolic condition that affects how your body uses
fat from the food you eat to make energy. This can include breastmilk and regular formula. Your body breaks down fat into smaller parts called fatty acids. With a deficiency, or not enough of MCAD your body can’t use medium-sized fatty acids to make energy and control sugar. These fatty acids build up in your body and can cause health problems.
What are some early signs of MCAD deficiency?
Your baby may:
- be very sleepy (hard to wake for feedings)
- have poor feeding
How is MCAD deficiency treated?
Babies with MCAD deficiency need to be fed often. They don’t need a low-fat diet. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about MCAD, go to:
Baby's First Test
Always be careful when you search for information about MCAD on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Methylmalonic acidemia (MMA)
Printable condition information (PDF)
Sounds like
meth-ill-ma-lawn-ic acid-e-mia.
What is Methylmalonic acidemia (MMA)?
MMA is a group of metabolic conditions that affect how your body uses
protein and fat from the food you eat to make energy. This includes breastmilk and regular formula.) With MMA, your body can’t break down certain amino acids which are the building blocks of protein. These amino acids then build up in your body and can cause serious health problems.
What are some early signs of MMA?
Your baby may:
- have poor feeding
- vomit (more than usual spit-up after feeding)
- be sleepy (hard to wake for feeding)
How is MMA treated?
Babies with MMA usually go on a low-protein and low-fat diet and drink a special formula. They may also need special medicines. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about MMA, go to:
Baby's First Test
Always be careful when you search for information about MMA on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Phenylketonuria (PKU)
Printable condition information (PDF)
Sounds like
feen-il-ke-ton-u-re-ah.
What is Phenylketonuria (PKU)?
PKU is a metabolic condition that affects how your body uses
protein from the food you eat to make energy. This includes breastmilk and regular formula. With PKU, your body can’t break down one of the building blocks of protein called phenylalanine (PHE). PHE then builds up in your body and can cause serious health problems such as brain damage.
How is PKU treated?
Babies with PKU usually go on a low-protein diet and drink a special formula. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about PKU, go to:
Always be careful when you search for information about PKU on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Propionic acidemia (PA)
Printable condition information (PDF)
Sounds like
pro-pee-on-ic acid-e-mia.
What is Propionic acidemia (PA)?
PA is a metabolic condition that affects how your body uses
protein and fat from the food you eat to make energy. This includes breastmilk and regular formula. With PA, your body can’t break down certain amino acids which are the building blocks of protein. These amino acids then build up in your body and can cause serious health problems.
What are some early signs of PA?
Your baby may:
- be very sleepy (hard to wake for feedings)
- have poor feeding
- vomit (more than spit-up after feeding)
How is PA treated?
Babies with PA usually go on a low-protein diet and drink a special formula. They may also need special medicines. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about PA, go to:
Baby's First Test
Always be careful when you search for information about PA on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Severe combined immunodeficiency (SCID)
Printable condition information (PDF)
Sounds like
severe combined immune-o-de-fish-in-sea or skid.
What is Severe combined immunodeficiency (SCID)?
SCID is a condition that affects your body’s ability to fight infections. With SCID, some areas of your immune system don’t work like they should. Your body can’t fight enough germs to keep you from getting sick. When this happens, your body can get infections, and sometimes they can be severe.
What causes SCID?
SCID is a genetic condition. Babies have SCID when they are born with a change in genes of the immune system.
SCID isn’t caused by anything that happened during pregnancy. There may be no signs of SCID at birth. It is important to remember that many of these treatable conditions can’t be seen by looking at your baby.
How is SCID treated?
Part of keeping your baby healthy is to keep away from anyone that is sick since your baby can get sick easier. A specialized healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
Is there anything I need to do before my baby has more tests?
To avoid germs:
- try to keep your baby away from crowded places
- stay away from anyone who may be sick
- make sure hands get washed before holding your baby
To learn more about SCID, go to:
Baby's First Test
Always be careful when you search for information about SCID on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Sickle cell disease (SCD)
Printable condition information (PDF)
Sounds like
sick-ill cell disease.
What is Sickle cell disease (SCD)?
SCD is a condition that affects how blood carries oxygen in your body. Red blood cells help carry oxygen from your lungs all through your body. With SCD, some red blood cells have a
sickle shape that looks like a crescent. These sickle cells are very delicate and can get stuck moving through your body. Some parts of your body may not get enough blood and oxygen.
How is SCD treated?
A baby with SCD will need to take medicine to help prevent infections. A specialized healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
Is there anything to do before my baby has more tests?
If your baby has a temperature of 38°C or higher or looks unwell, take your child to the emergency room before your visit for more tests.
To learn more about SCD, go to:
Always be careful when you search for information about SCD on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Tri-functional protein (TFP) deficiency
Printable condition information (PDF)
Sounds like
Try-funk-shun-al pro-teen de-fish-in-sea.
What is Tri-functional protein (TFP) deficiency?
TFP deficiency is a metabolic condition that affects how your body uses
fat from the food you eat to make energy. This includes breastmilk and regular formula. Your body breaks down fat into smaller parts called fatty acids. With a deficiency, or not enough of TFP your body can’t use long-sized fatty acids to make energy and control sugar. This can cause serious health problems.
How is TFP deficiency treated?
Babies with TFP deficiency usually go on a low-fat diet and drink a special formula. Babies need to be fed often. They may also need special medicines. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about TFP deficiency, go to:
Baby's First Test
Always be careful when you search for information about TFP deficiency on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Tyrosinemia Type 1 (TYR1)
Printable condition information (PDF)
Sounds like
tie-row-sin-e-mia type 1.
What is Tyrosinemia type 1 (TYR1)?
TYR1 is a metabolic condition that affects how your body uses
protein from the food you eat to make energy. This includes breastmilk and regular formula. With TYR1, your body can’t break down a building block of protein called tyrosine. Tyrosine then builds up in your body and can cause serious health problems.
How is TYR1 treated?
Babies with TYR1 usually go on a low protein diet and drink a special formula. They may also need special medicines. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about TYR1 deficiency, go to:
Baby's First Test
Always be careful when you search for information about TYR1 deficiency on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency
Printable condition information (PDF)
Sounds like
very long chain a-sea-til-co-a de-high-draw-gen-ase de-fish-in-sea.
What is Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency?
VLCAD deficiency is a metabolic condition that affects how your body uses fat from the food you eat to
store and make energy. This includes breastmilk and regular formula. Your body breaks down fat into smaller parts called fatty acids. With a deficiency, or not enough of VLCAD your body can’t use very long sized fatty acids to make energy and control sugar. These fatty acids build up in your body and can cause serious health problems.
What are some early signs of VLCAD deficiency?
Your baby may:
- have poor feeding
- be very sleepy (hard to wake for feedings)
How is VLCAD deficiency treated?
Babies with VLCAD deficiency may go on a low-fat diet and a special formula. Babies need to be fed often. They may also need special medicines. The metabolic healthcare team will help you care for your baby. They’ll give you detailed instructions about how you manage your baby’s health.
To learn more about VLCAD deficiency, go to:
Baby's First Test
Always be careful when you search for information about VLCAD deficiency on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
What causes these conditions?
Most of the time these are genetic conditions. Usually babies are born with them when they inherit a gene that has a change in it from both parents. This change stops the gene from working properly. These conditions are not caused by anything that happened during pregnancy. There may be no signs of these conditions at birth. It’s important to remember that many treatable conditions can’t be seen by looking at your baby.
What if testing shows my baby has one of these conditions?
The specialists will work with you to suggest treatment and make a care plan for your baby if tests show that your baby has one of these conditions. Your healthcare team is there to provide the best care and support possible to you and your baby.
Where can I learn more?
To learn more about newborn screening tests, go to:
Always be careful when you search for information on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.
