Biotinidase deficiency and other disorders

Newborn screening tests are divided into categories based on the kind of condition they test for. For example, some conditions affect how a baby’s body metabolizes (breaks down) food. Some affect a baby’s blood. A few conditions don’t really fit neatly into any of the categories, so we just call them “other” disorders.

Like all conditions tested for in newborn screening, these “other” conditions are rare and mostly treatable. They’re also inherited. This means they’re passed from parent to child through genes. Genes are parts of your body's cells that store instructions for the way your body grows and works. In the United States, all babies have newborn screening tests to see if they may have certain inherited conditions when they’re born. 

Babies with these disorders may look healthy at birth, but they may show signs and symptoms soon after birth. With early diagnosis and treatment, most babies with these disorders can lead healthy lives. Without treatment, some of these disorders can lead to serious health problems and even death. This is why newborn screening right after birth is so important.

For more information on these disorders, go to

What is biotinidase deficiency?

A baby with biotinidase deficiency (also called BIOT) has trouble using a vitamin called biotin. This is a B vitamin that’s found in foods like eggs and milk. The body uses biotin to help break down food. About 1 in 75,000 babies is born each year in the United States with this condition. 

If your baby has BIOT, she may need to see a doctor who’s an expert in treating BIOT. She also may need to see a dietician. This is a person with special training in helping people eat healthy. Your baby’s treatment includes taking a biotin supplement. A supplement is a product you take to make up for certain nutrients that you don’t get enough of in the foods you eat.

Physical signs and symptoms of BIOT include: 


  • Hair loss
  • Skin rashes
  • Weak muscle tone


Medical signs and symptoms include: 


  • Breathing problems
  • Organic acids (acids made by the body) in blood and urine
  • Large liver and spleen 
  • Mildly high levels of ammonia in the blood. Ammonia is made by cells in your body, especially in the intestines, liver and kidneys. The liver uses most of the ammonia in your body. Too much ammonia can be harmful to the brain.
  • Pink eye
  • Feeding problems, sometimes with throwing up and/or diarrhea


Behavioral signs and symptoms include: 


  • Intellectual and developmental disabilities. These are problems with how the brain works that can cause a person to have trouble or delays in physical development, learning, communicating, taking care of himself or getting along with others.
  • Lack of energy


Without treatment, BIOT can lead to:


  • Vision and hearing problems
  • Coma
  • Seizures
  • Intellectual and developmental disabilities


What is congenital hypothyroidism?

If a baby has congenital hypothyroidism (also called CH), his body doesn’t make enough of a hormone (chemical) called thyroid hormone. Thyroid hormone helps the brain and body grow and develop. About 1 in 5,000 babies is born each year in the United States with this condition. 

Physical signs and symptoms of CH include: 


  • Being short or small
  • Dry hair that breaks easily, or a low hairline
  • Goiter. This is a lump in the neck caused by a swollen thyroid gland (where thyroid hormone is made).
  • Large hands and short fingers, or short arms and legs
  • Large soft spots on the head  
  • Pale, dry skin
  • Swollen face or puffiness around the eyes
  • Thick tongue that sticks out of the mouth
  • Weak muscle tone


Medical signs and symptoms include:


  • Anemia. This is when you don’t have enough healthy red blood cells to carry oxygen to the rest of your body.
  • Breathing problems
  • Choking
  • Constipation or few bowel movements
  • Jaundice. This is a common condition caused by the build-up of a substance called bilirubin in the blood that makes a baby's skin and the white parts of his eyes look yellow.
  • Slow heart rate
  • Trouble feeding


Behavioral signs and symptoms include:


  • Developmental delays
  • Drowsiness, sluggishness
  • Hearing or speech problems
  • Hoarse cry or voice


Without treatment, babies with CH may have problems with growth or brain development. Early treatment can help prevent or reverse these problems. If your baby has CH, she may need to see a pediatric endocrinologist. This is a doctor who treats children with hormone problems. Your baby may need to take a medicine called L-thyroxine. This is the man-made form of thyroid hormone. Your baby may need to take an L-thyroxine tablet every day for the rest of her life. 

What is galactosemia?

Babies with galactosemia (also called GALT) can’t break down galactose, a kind of sugar found in milk and other dairy products. When these babies eat these foods, harmful levels of galactose and certain chemicals can build up in blood and organs. In newborn screening, your baby’s blood is tested for GALT. About 1 in 50,000 babies is born with this condition each year in the United States.

If your baby has GALT, she can’t have dairy products (milk, cheese and eggs) or products made with them, including certain lunch meats, sausages, cereals and breads. Your baby’s provider and dietician can help you come up with a meal plan that helps you limit foods that may be harmful to your baby. Your baby probably will follow the meal plan for her whole life. Your baby also may need to take a vitamin D supplement. Children usually get vitamin D from milk and dairy products. 

If your baby has severe liver problems, she may be need a vitamin K supplement.

After starting breast milk or formula, babies with GALT may have these signs and symptoms: 


  • Blood clotting problems, including bleeding that doesn’t stop quickly and easy bruising
  • Cataracts. This is when the lens of the eye is clouded.
  • Diarrhea or throwing up; also having trouble feeding and gaining weight
  • Drowsiness
  • Fussiness
  • Jaundice 
  • Low blood sugar
  • Sepsis, an infection in the blood.
  • Shock. This is a life-threatening condition that happens when the body doesn’t get enough blood flow.


If not treated, GALT can cause serious health problems, including:


  • Liver problems
  • Vision and speech problems
  • Seizures
  • Intellectual and developmental disabilities


What is Pompe disease?

Babies with Pompe disease (also called glycogen storage disease type II) have trouble breaking down a large sugar called glycogen. Too much glycogen can keep certain organs and tissues, like heart and muscles, from working properly. About 1 in 40,000 people have Pompe disease.

There are three kinds of Pompe disease. 

Classic infantile-onset 

This condition appears shortly after birth. It can lead to an enlarged liver, heart and tongue. If untreated, it can cause death within the first year of life. Signs and symptoms include:


  • Breathing problems
  • Failure to thrive (slow weight gain and growth) 
  • Hearing problems
  • Muscle weakness
  • Poor muscle tone (baby seems floppy and has poor head control)
  • Trouble feeding


Non-classic infantile-onset

This condition appears by age 1. It can lead to an abnormally large heart. If untreated, it can cause death within the first few years of life. Signs and symptoms include:


  • Breathing problems
  • Delayed motor skills, like rolling over and sitting
  • Muscle weakness



This doesn’t usually appear until later in childhood or in an adult. Signs and symptoms usually are mild and include breathing problems and muscle weakness. 

Treatment for Pompe disease includes:


  • Enzyme replacement therapy to help the baby’s organs work better, help organs from growing too big and improve motor skills
  • Physical therapy to strengthen muscles and improve motor skills
  • Respiratory therapy to help with breathing problems


If Pompe disease is found early and treated right away, babies may have a better chance of living longer than expected. Even with treatment, a child with Pompe disease often dies in early childhood. A person with late-onset disease may live longer.

What is severe combined immunodeficiency?

Babies with severe combined immunodeficiency (also called SCID) have trouble making white blood cells that work normally. These blood cells help fight off infection, so babies with SCID get sick easily and often. Babies with SCID can’t get vaccines that contain live viruses because the vaccine itself can make them sick. About 1 in 100,000 babies is born with SCID each year in the United States. Most are diagnosed by about 6 months of age. Without treatment, most babies with SCID die before age 2. 

Signs and symptoms of SCID include:


  • Bronchitis. This is inflammation (irritation) of the lining of the tubes that connect the trachea (windpipe) to the lungs.
  • Ear and sinus infections
  • Diarrhea
  • Meningitis, inflammation of the lining of the brain and spinal cord
  • Pneumonia, an infection of the lungs
  • Sepsis, an infection in the blood
  • Thrush, a yeast infection in a baby’s mouth or throat that can cause cracks in the corners of the mouth and white patches on the tongue, lips, insides of the cheeks and the roof of the mouth


Treatment for babies with SCID may include:


  • Antibiotics. These are medicines that kill infections caused by bacteria. 
  • Stem cell transplant. Stem cells can develop into many different kinds of cells in the body and can help the body repair itself. They are found in bone marrow, the spongy tissue inside some bones (like hip and thigh bones). They’re also in umbilical cord blood, the blood left in the umbilical cord and placenta after a baby is born. In a stem cell transplant, stem cells from a healthy person are put into the baby through a tube into a vein. The new stem cells travel through the blood to the baby’s bone marrow. Once these cells reach the bone marrow, they can help the baby build up a healthy immune system. The immune system is what helps the body fight off infection. Identification of SCID through newborn screening allows for early stem cell transplants and improved survival.


What other disorders are tested for in newborn screening?

The March of Dimes recommends that all babies be screened for these “other” disorders as well:




Last reviewed: March, 2015