Metabolism disorders, conditions or diseases involve aberrant chemical reactions of enzymes or hormones in your body’s cells. Most metabolism problems arise out of the level or function of these enzymes or hormones, both of which are needed for your body to function normally.
Serious symptoms may result anytime you have a deficiency or buildup of toxic substances as a result of blocked, defective or a malfunctioning metabolism. Some metabolic diseases are inherited, and are known as inborn errors of metabolism. So after birth, babies are routinely tested for many metabolic diseases.
Some common or heredity metabolism disorders, conditions or disease are:
Hyperthyroidism is caused by an overactive thyroid gland which releases too much thyroxine, a hormone. This condition increases your basal metabolic rate (BMR) causing symptoms such as:
- weight loss
- bulging eyes
- increased heart rate
- increase in blood pressure
- a swelling in the neck from an enlarged thyroid (goiter)
The disease may be controlled with medications, surgery or radiation treatments.
Hypothyroidism is caused by an absent or underactive thyroid gland, and it results from a developmental problem or a destructive disease of your thyroid. When your thyroid releases too little thyroxine, decreasing BMR, it can cause:
This condition is treated with taking thyroid hormone to maintain normal levels in your body.
When left untreated, this pancreas condition can cause:
Type 1 diabetics need to receive regular injections of insulin and control blood sugar levels to reduce the risk of developing problems.
Type 2 diabetes results when your body doesn’t respond normally to insulin. Symptoms of this disorder are similar to those of type 1 diabetes.
Many who develop type 2 diabetes are overweight, and this is believed to be a key factor in sluggish responsiveness to insulin. Some can be treated successfully with:
- dietary changes
- oral medication
Controlling blood sugar levels reduces the risk of developing the same kinds of long-term health problems that occur with type 1 diabetes.
Phenylketonuria, PKU, is a condition that occurs in infants due to a defect in the enzyme that breaks down the amino acid phenylalanine, that is required for normal growth and protein production. When too much of it builds up, brain tissue is affected and mental retardation may result. Dietary restriction of the amino acid can prevent or lessen the severity of PKU complications.
G6PD deficiency (glucose-6-phosphate dehydrogenase) affects your body’s ability to metabolize carbohydrates. Without enough normal G6PD to help red blood cells handle certain harmful substances, red blood cells can be damaged or destroyed, leading to a condition known as hemolytic anemia. Kids with G6PD deficiency may:
G6PD deficiency is treated by discontinuing medications, or treating the illness or infection causing red blood cell stress.
Galactosemia is an inborn error of metabolism in which there is a deficiency in an enzyme that breaks down galactose, the sugar in milk. If galactose builds up in the blood, it can cause serious health problems, and its symptoms usually occurring within a couple of days after birth, including:
If galactosemia is not diagnosed and treated quickly, it can cause liver, eye, kidney and brain damage.