Metabolic Diseases in Children

Some metabolic diseases can be both debilitating and deadly in children. A few can be treated, but several have no treatment or cure. Understanding these diseases will help give an idea of what to look for when it comes to your child's health. Consult your pediatrician if your child presents any of these signs or symptoms.

Diseases

• Wilson disease is a disease that causes the body to retain copper, which can be poisonous. A small amount of copper is needed to stay healthy, but organ damage can be caused by copper build-up in organs like the brain, eyes, liver and other organs. Tay-Sachs is a disease that typically appears in the first few months of life that causes distention of nerve cells caused by a fatty substance called ganglioside. Leukodystrophy is a gradually degradation of the brain's white matter.

Causes

• In a healthy body, copper is filtered out of the blood by the liver and released in the gastrointestinal tract. A mutation in the ATP7B gene causes the liver to be unable to process the copper at a normal speed, causing a build-up of copper that eventually travels through the bloodstream to other organs. Tay-Sachs is caused by an underactive beta-hexosaminidase A, which facilitates the breakdown of fatty materials. This causes fatty materials to build up and damage nerve cells. Leukodystrophy is caused by an abnormality in how the myelin nerve insulator processes or metabolizes the chemicals that comprise it.

Symptoms

• Copper build-up can cause a swollen liver, jaundice and easy bruising. Build-up in the nervous system can cause difficulty speaking, muscle stiffness and changes in behavior. Tay-Sachs disease can cause a child to go blind, muscle atrophy, dementia and seizures. Tay-Sachs disease can even cause paralysis. Leukodystrophy causes a gradual appearance of symptoms like loss of body tone, speech, vision and hearing.

Treatments

• Wilson disease requires life-long maintenance of copper levels in the body. Zinc is used to prevent the absorption of copper, and drugs like Cuprimine are used to remove copper already in the body through the kidneys. There is currently no treatment available for Tay-Sachs disease. Anticonvulsive medications are used to prevent seizures, and some children require a feeding tube. Treatment of Leukodystrophy involves speech and physical therapy, and research is showing promise for bone marrow transplants as treatment.

Risk Factors

• Those with a family history of Wilson disease are at a greater risk of getting it. Those that have liver disease or abnormal liver tests are also at an increased risk because an abnormal liver may not be able to filter copper as well. Scientists have found those that are of Eastern European or Jewish decent are at a greater risk for Tay-Sachs disease. A child whose parents both carry the mutated gene have a 25 percent chance of having Tay-Sachs according to NINDS. Leukodystrophy is an inherited disorder that puts those with a family history of leukodystrophy at risk.