What Can Go Wrong With Our Metabolism?

There are metabolic disorders that are inherited called "inborn errors of metabolism". There is a newborn screening test used to detect these metabolic diseases. Some of these inborn errors of metabolism can lead to serious complications

An abnormal chemical reaction in the cells of the body is commonly called a metabolic disorder. Usually these disorders of metabolism involve abnormal levels of enzymes or hormones or they involve problems with the functioning of the enzymes and hormones. The metabolism of body chemicals can also be blocked or defective, causing a toxic buildup of substances in the body or it could cause a deficiency of substances that the body needs to function normally. If either of these things happen it can lead to some pretty serious symptoms.

There are metabolic disorders that are inherited called "inborn errors of metabolism". There is a newborn screening test used to detect these metabolic diseases. Some of these inborn errors of metabolism can lead to serious complications or even death if the condition is not detected, and controlled with diet or medication when the individual is very young.

Some metabolic conditions and disorders are:

G6PD deficiency

Galactosemia

Hyperthyroidism

Phenylketonuria

Type 1 diabetes mellitus

Type 2 diabetes

G6PD deficiency: One of the enzymes that help to metabolize carbohydrates is called Glucose-6-phosphate dehydrogenase, or G6PD for short. This enzyme is produced by the red blood cells. When red blood cells are damaged or destroyed a condition known as hemolytic anemia can occur. When hemolysis occurs (red blood cells are destroyed prematurely) and the bone marrow cannot manufacture enough red blood cells to replace them the body exhibits symptoms such as pale skin, fatigue, rapid heartbeat and rapid breathing. Individuals with G6PD may also have enlarged spleen or jaundice (yellowing of skin and eyes). Whatever is causing the damage to the red blood cells (illness or infection) must be treated.

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Galactosemia: Is an inborn error of metabolism when not enough of the enzyme that breaks down the sugar in mild (galactose) is produced in the liver. Galactose builds up in the bloodstream and can cause serious health problems for the infant such as vomiting, swollen liver, and jaundice. If not diagnosed and treated quickly enough brain, eye, kidney and liver damage can result.

HYPERthyroidism is caused by an overactive thyroid gland where there is too much of the hormone thyroxine which will then increase the individual's basal metabolic rate (BMR) and cause symptoms such as weight loss, an increase in heart rate, increase in blood pressure, protruding eyes, swelling in the neck from an enlarged thyroid (goiter). This condition can be treated with surgery, radiation treatments and medications.

HYPOthyroidism: is an under active thyroid or a lack of a thyroid gland and results in developmental problems or destructive disease of the thyroid. There is too little of the hormone thyroxine so the individual's basal metabolic rate (BMR) is too low which results in stunted growth, mental retardation, slowed heart rate, excessive weight gain, and constipation, and also fatigue. Treatment is an oral thyroid hormone that is given so that the body will receive adequate levels of the hormone.

Phynylketonuria: Also known as PKU, this is a condition that is a defect in the enzyme that breaks down amino acids known as phenylalanine. If too much of phenylalanine builds up in the body, brain tissue is affected and mental retardation is the result. Dietary restrictions of the amino acid can lessen the severity of the complications caused by this defect.

Type 1 diabetes mellitus is when the pancreas does not produce or secrete enough insulin to meet the body's needs. Symptoms of this disease are: excessive urination and thirst, weight loss despite extreme hunger. Insulin injections are needed to control the blood sugar levels in order to reduce the risk of developing problems associated with diabetes.

Type 2 diabetes: In this disease, the body can't respond normally to the insulin in the body. The symptoms are similar to type 1 diabetes. Usually children and teens that have type 2 diabetes are overweight, which may play a role in why the body decreases its response to insulin. Diet is the normal treatment for this disease along with exercise, and oral medication. Sometimes insulin injections are necessary. It is necessary to control blood sugar levels to reduce the risk of developing long-term health problems that can occur.

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