Health&Fitness Talk

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Metabolic disorders and syndromes Metabolic disorders and syndromes
Metabolic disorders are conditions in which the metabolic process in our body is malfunctioning. These disorders are classifed as either inherited metabolic disorders,... Metabolic disorders and syndromes

by Kimberly Allen R.N.

Metabolism is the process the body uses to convert substances into energy as well as to use energy.  For example, breaking down
carbohydrates, protiens and fats in food to produce energy or turning excess nitrogen into waste to be excreted in urine.  Metabolism in simple terms works like an assembly line with workers called enzymes is missing or just plain not working it messes up the whole line.

Persistent obesity is often the most obvious symptom of a metabolic disorder.

Metabolic disorders are conditions in which the metabolic process in our body is malfunctioning.  These disorders are classifed as either inherited metabolic disorders, like Tay-sach’s or PKU or metabolic syndromes, like type II diabetes, that occur because of damage to or disease of certain organs like the liver or pancreas.
Metabolic disorders when considered separately are rare, when considered all together as a group they affect approximately 1 in
25,000 new borns in the US.  However, in Jews of Central and Eastern European descent the rate is higher.  Metabolic syndromes however are more prevelant in industrialized countries.  It is estimated that 75 million people in the US are affected by some type of metabolic syndrome.
In the case of inherited metabolic disorders it is usually a single enzyme that is either missing or is present but not functioning.  To have inherited a metabolic disorder you have to have inherited 2 mutated copies of a gene, one from each parent.  Usually neither parent has a metabolic disorder they are “carriers” having only one bad gene.  Most inherited metabolic disorders occur because of a gene mutation that occurred several generations ago and is then passed on through the generations.
In metabolic syndromes both genetics and the environment significantly impact the development of metabolic syndromes.  If you have a family history of type II diabetes, high blood pressure, or early cardiac disease your chances of developing a metabolic syndrome increases.  If you have a sedentary lifestyle and a diet that is high in carbohydrates and fats and low in fiber and other nutrients that leads to progressive weight gain  your risk for developing a metabolic syndrome significantly increases.  The greatest risk factor for developing a metabolic syndrome is obesity.  Other factors that can affect your chances of developing a metabolic syndrome include post menopausal women, smoking, a diet high in carbohydrates and lack of exercise, even if your not over weight.
The symptoms of both inherited metabolic disorders and metabolic syndrome vary depending on the type of metabolic problem you have. Some of the common symptoms are lethargy and fatigue, abnormal odor of urine, breath, sweat and saliva and sometimes seizures or coma.  These symptoms can develop suddenly or gradually over a period of time.
In the US newborns are all screened for PKU after birth before they leave the hospital and now with improved technology many states are beginning to expand their newborn testing for other inherited metabolic disorders.
Treatment depends on whether it’s an inherited metabolic disorder or a metabolic syndrome. Treatments for inherited metabolic disorders are limited and focuses on specific goals.  The goals for inherited metabolic disorders are to reduce or eliminate foods or medications that can’t be metabolized properly, replace the enzyme that is missing and remove any toxic products of metabolism that build up because of the disorder.  The major goals in treating metabolic syndromes is to treat the underlying cause and any cardiovascular risk factors that may be present.  Lifetyle modifications are the most effective and
preferred treatment for metabolic syndromes.  This includes diet therapies and yes you guessed it ‘exercise’!  These modifications
should always be done under the supervision of your Dr due to the high risk for cardiovascular complications.

Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at