In a broad sense, a metabolic disorder is any disease that is caused by an abnormal chemical reaction in the body's cells. Most disorders involve either abnormal levels of enzymes or hormones or problems with the functioning of those enzymes or hormones.
When the metabolism of body chemicals is blocked or defective, it can cause a buildup of toxic substances in the body or a deficiency of substances needed for normal body function, either of which can lead to serious symptoms.
Some metabolic diseases are inherited. These are called inborn errors of metabolism. When babies are born, they're tested for many of these in a newborn screening test. Many inborn errors of metabolism can lead to serious complications or even death if they're not controlled with diet or medication from an early age.
G6PD deficiency: Glucose-6-phosphate dehydrogenase (G6PD) is just one of the many enzymes that play a role in cell metabolism. G6PD is produced by red blood cells (RBCs) and helps the body metabolize carbohydrates. Without enough normal G6PD to help RBCs handle certain harmful substances, the cells can be damaged or destroyed, leading to hemolytic anemia. In a process called hemolysis, RBCs are destroyed prematurely, and the bone marrow (the soft, spongy part of the bone that produces new blood cells) may not be able to produce enough new red blood cells.
Kids with G6PD deficiency may be pale and tired and have a rapid heartbeat and breathing. They may also have an enlarged spleen or jaundice (yellowing of the skin and eyes). G6PD deficiency is usually treated by stopping medications or treating the illness or infection causing the stress on the RBCs.
Galactosemia: Babies born with this inborn error of metabolism do not have enough galactose, the enzyme that breaks down the sugar in milk, which is produced in the liver. If the liver doesn't produce enough galactose, the enzyme builds up in the blood and can cause serious health problems.
Symptoms usually occur within the first days of life and include vomiting, a swollen liver, and jaundice. If galactosemia is not diagnosed and treated quickly, it can cause liver, eye, kidney, and brain damage.
Hyperthyroidism: This is when an overactive thyroid gland releases too much of the hormone thyroxine, which increases BMR. It causes symptoms such as weight loss, increased heart rate and blood pressure, protruding eyes, and a swelling in the neck from an enlarged thyroid (goiter). The disease may be controlled with medications or through surgery or radiation treatments.
Hypothyroidism: This is when an absent or underactive thyroid (due to a developmental problem or thyroid disease) causes the release of too little of the hormone thyroxine, which lowers BMR.
If not treated, this condition can result in stunted growth and mental retardation in infants and young children. Hypothyroidism slows body processes and causes fatigue, slow heart rate, excessive weight gain, and constipation. Kids and teens with this condition can be treated with oral thyroid hormone.
Phenylketonuria: Also known as PKU, this is caused by a defect in the enzyme that breaks down the amino acid phenylalanine. This amino acid is necessary for normal growth in infants and children and for normal protein production. However, if too much of it builds up in the body, brain tissue is affected and mental retardation occurs.
Early diagnosis and dietary restriction of the amino acid can prevent or lessen the severity of these complications.
Type 1 diabetes mellitus: This occurs when the pancreas doesn't produce and secrete enough insulin. Symptoms of this disease include excessive thirst and urination, hunger, and weight loss. Over the long term, it can cause kidney problems, pain due to nerve damage, blindness, and heart and blood vessel disease.
Kids and teens with type 1 diabetes need to receive regular injections of insulin and control blood sugar levels to reduce the risk of developing complications.
Type 2 diabetes: This occurs when the body can't respond normally to insulin. Symptoms are similar to those of type 1 diabetes. Many kids who develop type 2 diabetes are overweight, and this is thought to play a role in their decreased responsiveness to insulin.
Some can be treated successfully with dietary changes, exercise, and oral medication, but insulin injections are necessary in other cases. Controlling blood sugar levels reduces the risk of developing the same kinds of long-term health problems that occur with type 1 diabetes.
Reviewed by: Steven Dowshen, MD
Date reviewed: February 2012