metabolic disorder info

Metabolic Disorders: An Overview

Metabolic disorder is a general term that describes a wide range of diseases that affect normal body metabolism. Causes vary ranging from hereditary factors, such as those being passed on from your parents, to diseases which affect the production of enzymes needed for the metabolic process.

Metabolism is the process of breaking down food into their simpler components which the body can use for normal body functioning and growth. Food is broken down into three basic components– fats, proteins and carbohydrates. People with slow metabolism will find it harder to keep their weight down because fats are not broken down fast enough to be used by the body. The excess fat is stored, which is why some people even those on a diet have a hard time keeping their weight down.


Some people are more prone to being fat than others; this is not a myth, but a fact. A careful study of your family’s medical history could also give you an idea if you are at risk of developing a metabolic disorder.

Medical Conditions or Diseases

A wide range of medical conditions display metabolic disorders as a major symptom of the disease. Effects on the body vary with regards to what the disease affects. Below are two common diseases associated with metabolic disorders.

  • Diabetes is one of the most common metabolic disorders. People suffering from diabetes have a difficult time breaking down sugar. Insulin is taken to breakdown sugar and it prevents a dangerous accumulation of sugar in the blood. Mild types of diabetes are treated with simple diet and exercise.
  • Gout is a medical condition commonly found in men. Gout is characterized by excess uric acids in the body. Being overweight predisposes a person to this condition. Arthritis or swelling in the joints is one of the common symptoms of gout. Because of high uric acids in the body, these acids find their way into the different joints in the body causing swelling and pain.

Newborn Screening Tests

One of the first medical checkups a person undergoes in his life is taken just before a baby leaves the hospital. Newborns are tested for any life-threatening medicalconditions before symptoms develop. These diseases are related to metabolic disorders which can affect the normal body and brain development of an infant. Newborn screening is done by getting a few drops of blood by pricking the heels of the baby. Blood samples are then submitted for study and then tested for these medical conditions. Newborns found positive with metabolic disorders are referred to a medical specialist for treatment. Normal growth and development of the baby can be facilitated by your doctor’s treatment plan which can save your baby from lifelong health and developmental problems.

Below are the 5 conditions and their long-term effects for which newborns are tested:

  • CH Congenital Hypothyroidism. This causes severe mental retardation, CH results from lack or absence of thyroid hormone, which is essential to the growth of the brain and the body. If the disorder is not detected and hormone replacement is not initiated within 4 weeks, the baby’s physical growth will be stunted and she/he may suffer from mental retardation.
  • CAH Congenital Adrenal Hyperplasia. CAH is an endocrine disorder that causes severe salt loss, dehydration, and abnormally high levels of male sex hormones in both boys and girls. If not detected and treated early, babies may die within 7-14 days.
  • GAL (Galactosemia). GAL is a condition in which the body is unable to process galactose, a sugar present in milk. Accumulation of excessive galactose in the body can cause many problems, including liver damage, brain damage and cataracts.
  • PKU (Phenylketonuria). PKU is a metabolic disorder in which the body cannot properly use one of the building blocks of a protein called phenylalanine. Excessive accumulation of phenylalanine in the body causes brain damage.
  • G6PD Severe Anemia, Kernicterus Normal. G6PD deficiency is a condition where the body lacks the enzyme called G6PD. Babies with this deficiency may have hemolytic anemia resulting from exposure to certain drugs, foods and chemicals.

Treating and Managing Metabolic Disorders

are lifelong or long-term diseases. Treating these metabolic disorders require positive identification of the underlying disease or causative factor. Management of the disease may require taking in dietary supplements to replace those nutrients which the body could not produce. If the disease is discovered in its early stages such as those done during newborn screening, a child could live a normal and productive life.

Metabolic Disorders and Weight

Metabolic disorders and being overweight are often linked with each other. Other serious conditions such as poor brain development are also caused by certain metabolic conditions. Maintaining a healthy lifestyle and a proper diet helps avoid a wide variety of diseases. Obesity is considered to be a metabolic disease because the body was not designed to carry so much weight, and the additional pounds put a great amount of stress on the metabolic process. Obesity is not just a sign or symptom of a medical condition, but it also leads to other medical conditions such as heart and metabolic disease. If you are having problems maintaining your weight even with exercise and a healthy diet, it is best that you consult your doctor.

Written by, Ronald Uy, RN

© 2009 Hemorrhoid Information Center


Newborn Screening FAQ. Retrieved October 6, 2009 from Philippine Department of Health.

Metabolic Disorders. Retrieved October 7, 2009 from Mayo Clinic:

Metabolic syndrome. Retrieved October 7, 2009 from

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