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)