The liver plays an essential role in the healthy function of all major organs since it is the processing center for nutrients such as proteins, vitamins and fats. If there is a problem with a child’s liver, early diagnosis is key.
“As more is learned about inherited liver diseases, methods of early detection are becoming increasingly common,” said Dr. Saul Karpen, director of Texas Children’s Liver Center. “Educating parents about the various symptoms is an important first step in detecting these conditions, which often are very manageable in the early stages.”
Some of the more common inherited liver diseases include:
In this disease, an infant’s ammonia levels increase in the first few days of life. Because of an abnormal gene, infants with OTC deficiency cannot process the increased ammonia. Without a liver transplant, the child will suffer severe brain damage.
“Babies with OTC deficiency must receive prompt attention,” Karpen said. “They need medication and coordinated care with genetic specialists, and should be considered immediately for liver transplantation.”
One in 5,000 to 10,000 babies suffers from galactosemia, an intolerance to sugars found in mother’s and cow’s milk. Symptoms include lethargy, jaundice and extreme quietness. Once galactosemia is diagnosed, physicians suggest a switch to galactose-free formula. If the disease is undiagnosed, babies may be severely compromised.
Infants are usually not screened for tyrosinemia, an accumulation of toxins in the liver, because its prevalence by region can vary from one in 16,000 people to one in 100,000 people. Parents often notice signs of tyrosinemia during the infant’s first weeks to months of life. Symptoms include lethargy, jaundice, an enlarged abdomen and the appearance of being very ill.
Biliary atresia, characterized by the failure of the bile ducts to develop normally and drain bile from the liver, is the most common liver disease leading to liver transplants in children. Newborns with this condition usually appear normal but develop persistent jaundice after about two weeks. Sometimes there are few symptoms other than a large abdomen, persistent jaundice and pale-colored stools, but the infant may begin to lose weight and become irritable.
Approximately 80 percent of children treated with the Kasai procedure, a procedure that helps re-establish bile flow from the liver to the intestine, eventually require liver transplantation.
There is an 80 percent to 90 percent long-term survival rate for children who undergo transplantation for biliary atresia, but without the Kasai procedure or transplantation the average patient with biliary atresia dies before 1 year.
Learn more about the Texas Children's Liver Center and the Biliary Atresia Clinic.
