Infant Metabolic Disorder

Infant metabolic disorder is a serious condition that is sometimes missed at birth.  If a mistake is made and infant metabolic disorder is undiagnosed, a newborn baby can suffer a lifetime of permanent disability.

Infant metabolic disorder is a genetic condition that makes it hard for a baby or young child to get nutrients from food.  A child with infant metabolic disorder is unable to get energy from food because her body cannot break down the carbohydrates, proteins and fat that produce energy.  The symptoms of infant metabolic disorder vary greatly but can include:

  • abdominal pain
  • coma
  • developmental delay
  • failure to gain weight or weight loss
  • poor appetite
  • seizure

Symptoms often appear just a few weeks after birth.  Symptoms may be brought on by dehydration, food, medication or minor illness.  Inherited infant metabolic disorder is present at birth.   Because of newborn screening, many cases of infant metabolic disorder are discovered and treated quickly, allowing newborns to develop normally and to lead productive lives.

During routine screening blood is drawn, usually within 24 to 48 hours after birth, while the baby is still in the hospital.  The hospital should have a policy in place so that all babies get this screening.  Routine screening can detect many kinds of infant metabolic disorder, including:

  • Galactosemia (a baby’s inability to process sugar which can lead to liver damage)
  • Lysosomal storage disorders (a condition that causes toxic substances inside lysosomes which can cause heart damage, liver injury, nerve damage or stroke.   Some of these conditions are Fabry disease (pain in the extremeties), Gaucher disease (pain), Hurler syndrome (abnormal bone structure), Krabbe disease (progressive nerve damage), Niemann-Pick disease (liver enlargement; nerve disease), Tay-Sachs disease (progressive weakness)
  • Maple syrup urine disease (enzyme deficiency causing amino acids to buildup, causing urine to smell like maple syrup, resulting in nerve damage
  • Metal metabolism disorders including Hemochoromatosis (liver damage caused by excessive iron in the body) and Wilson disease (liver and brain damage caused by toxic copper levels in the body)
  • Phenylketonuria or PKU (an enzyme deficiency that can result in diminished brain function or mental retardation)

Clark, Perdue & List

For more information or to schedule an appointment with one of our experienced birth injury and infant metabolic disorder lawyers, please contact us.

RECENT BLOG POSTS FOR MEDICAL MALPRACTICE

Choosing the Right Nursing Home

Many nursing home residents suffer neglect and abuse--and choosing the right nursing home is a difficult and emotional experience. Concerns about an aging parent, and protecting her safety, can be scary.  With so many different long-term care facilities, relatives...

read more

Protecting Nursing Home Resident’s Rights

Nursing home resident's rights are often compromised upon admission to the facility.  Why?  Because nursing homes often require unsuspecting residents to sign arbitration agreements -- agreements that extinguish the right to trial by jury if the resident suffers...

read more

Emergency Room Injuries and How to Prevent Them

Errors in emergency rooms can lead to catastrophic injury or death.  According to the Centers for Disease Control, there are more than 140 million emergency room visits each year.  If only a small percentage of these visits involve medical errors, the result would be...

read more

Surgical mistakes could lead to lifetime care in Ohio

When a child needs medical treatment, his or her parents may be very apprehensive about any invasive procedures. This fear is understandable as there are instances in which surgical mistakes could occur and cause serious damage. Ohio residents may be interested in a...

read more