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Understanding Infant Metabolic Disorders

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metabolic disorders

As an expectant parent, you likely spend your days eagerly anticipating the birth of your baby. Will it be a girl or a boy? What will he or she look like? Will she have her mom's curly hair? Will he have his dad's deep blue eyes?

But in the back of your mind, you likely also worry. Will (s)he be healthy and happy from the beginning of his or her life or will (s)he initially be colicky, cranky, and cry a lot?

Genetic Metabolic Disorders

Unfortunately, if both you and your spouse unknowingly carry a gene for a recessive metabolic disorder, your baby likely will be born with one since (s)he will have two such genes. According to the Health Resource and Services Administration, over 5,000 babies in the U.S. are born with metabolic disorders.


A metabolic disorder is a condition that makes it difficult for your child to get nutrients from the food (s)he eats because his or her body cannot break down carbohydrates, proteins, and/or fat. Consequently, (s)he cannot produce the energy (s)he needs.

birth injury attorney in Columbus, OH, explains that untreated infant metabolic disorder can lead to serious health complications. Early symptoms can include the following:

  • Poor appetite
  • Abdominal pain
  • Failure to thrive
  • Weight loss

If the metabolic disorder goes undiagnosed and untreated, however, more serious consequences can include seizures, coma, and eventually death.

PKU Test

You will be glad to know that all babies born in the U.S. must, by law, undergo a test, called the PKU test, that screens for metabolic disorders. Within 48 hours of your baby's birth and prior to his or her release from the hospital, a health care professional will draw a little blood from one of your baby’s heels and send it to a screening lab. This test screens for over 30 metabolic diseases. If the test comes back positive, you and/or your baby's pediatrician will receive a notification.

Some conditions the PKU test screens include the following:

  • Galactosemia: inability of your baby to process sugar that can lead to liver disease
  • Lysosomal storage disorders: conditions that let toxic substances build up in your baby's body and lead to liver injury, heart damage, nerve damage, or stroke
  • Maple-syrup urine disease (MSUD): an enzyme deficiency that allows amino acids to build up in your baby's body that causes his or her urine to smell like maple syrup and can lead to nerve damage
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: inability of your baby to convert fat into energy
  • Metal metabolism disorders: conditions such as Hemochromatosis (excessive iron in your baby's body leading to liver damage) and Wilson's disease (excessive copper in your baby's body leading to liver and/or brain damage)
  • Phenylketonuria (PKU): an enzyme deficiency that can lead to decreased brain function and/or mental retardation

Metabolic Disorder Treatments

Since a metabolic disorder causes your baby to have too much or too little of certain substances and nutrients, treatment generally consists of feeding him or her a special diet. For instance, if (s)he suffers from PKU, you'll want to feed her a phenylalanine-free formula and later a diet low in high-protein foods. If (s)he suffers from galactosemia, you will need to feed him or her a non-dairy formula free of lactose. Your pediatrician will recommend the special diet your baby needs.

While a metabolic disorder diagnosis can be a scary and confusing thing since there are so many such disorders, know that your child can live a full and healthy life if you begin carefully managing his or her formula immediately after birth and later the foods (s)he eats. You will need to get into the habit of carefully reading the labels on food products so you can prevent him or her ingesting foods that could harm him or her. You will also need to educate him or her from early childhood as to the foods (s)he can and cannot eat.