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What is a Metabolic Disorder?

Mary McMahon
Updated May 17, 2024
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A metabolic disorder is a medical condition characterized by problems with an organism's metabolism. Since a healthy, functioning metabolism is crucial for life, metabolic disorders are treated very seriously. A broad range of conditions including Tay-Sachs disease and Wilson's disease are classified as metabolic disorders. Diagnosing a metabolic disorder can be difficult, as a wide variety of problems create similar symptoms; many patients end up enduring a battery of tests and seeing multiple experts before the root cause of their problems is identified.

The process of converting food into energy is known as metabolism. Metabolic functions also govern the transport, storage, and distribution of energy throughout the body. A myriad of metabolic functions are constantly occurring in the body of any living organism, as the cells work together to keep their parent organism healthy. A major part of a healthy metabolism is the generation of enzymes which break food down into energy and handle the transport of that energy. Most metabolic disorders are related to enzyme malfunctions.

In an enzyme fails to perform properly or the body does not produce enough of it, the results can be very serious. Some compounds may build up to toxic levels in the body, because they are not being properly metabolized. In other cases, the host organism may fail to get proper nutrition, even if it is eating a healthy, balanced diet. A metabolic disorder can cause a wide range of symptoms including muscle weakness, neurological problems, intestinal irregularities, and cardiovascular problems, among many others.

Typically, a metabolic disorder is inherited. Parents may not be aware that they carry dangerous genes until their children are born. In other instances, diseases, exposure to toxins, diet, and drug use may cause metabolic disorders. Since the symptoms can be vague, diagnosis is complicated, especially in regions where people do not have access to excellent health care. A physician who is not experienced with metabolic disorders may try a number of other avenues of treatment before realizing that the condition is metabolic in origin.

The treatments for metabolic disorders vary, depending on what type of condition is involved and how severe the symptoms are. Once the problem has been identified, a doctor may prescribe drugs or therapy to help the body regulate itself. The patient may also be asked to participate in self-care through lifestyle changes such as an alteration in diet. Ideally, treatment will stabilize the metabolic disorder, allowing the patient to live a healthy, functional life.

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Mary McMahon
By Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a WiseGeek researcher and writer. Mary has a liberal arts degree from Goddard College and spends her free time reading, cooking, and exploring the great outdoors.

Discussion Comments
By anon310901 — On Dec 27, 2012

I have a 9 month old son who currently weighs 18 pounds. They are saying he is too small for his age, although he is 30 1/2 inches tall as well. He has an eating problem, ever since he was diagnosed with salmonella at the age of six months. They say he has a metabolic disorder and he has had blood work done, and now we go for results tomorrow. I'm pretty sure the whole "fat" comment is crap. Not everyone who has a Metabolic Disorder is "fat".

By anon213894 — On Sep 12, 2011

It seems to me that Metabolic Disorder is code for fat. I know I am fat. I don't need another label.

By anon159900 — On Mar 14, 2011

Reiki or Pranic healing can help in such types of the metabolic disorders. just search for a nearby therapist and discuss the matter. Your problem may be solved.

Thanks. Manikant G.

By anon145869 — On Jan 25, 2011

i don't think so because i am diagnosed with wilson's disease which is a life long disease. i lost quite a lot of weight and i had jaundice, anemia, etc. maybe all of you should get blood screening done so the doctors can know the problems you or your family member has.

By anon124693 — On Nov 07, 2010

I thought this was the best explanation of a metabolic disorder! Thanks!

By anon111065 — On Sep 14, 2010

my son is five months old; born at five pounds, now weighing 12 pounds at five months. they say he is small. newborn screening test came back positive for the metabolic disorder. now he has to see a heart doctor to make sure heart is growing right. they say they can't see symptoms this early so have to keep checking. it's getting on my nerves; seems like a lot of bull.

By jignesh — On Jun 03, 2010

My niece has a metabolic disorder of the liver. She is vomiting and it has lasted for 9-10 days. Here in ahmedabad all tests have been done, like urea cycle, etc. but all they are coming back normal.

The doctors are not able to diagnose the problem. This kind of problem occurs about every six months. She is currently six years old. She has had this problem for the last three years. Please help us to know who we should contact or consult to rectify this problem. Your early response would be appreciated.

By anon71196 — On Mar 17, 2010

i am a massage therapist, and recently i have been asked to massage an 11 year old boy with metabolic disorder to help him to relax.

i have limited knowledge about the disorder and wonder if there are complications in massaging individuals with the disorder. please help.

By anon61910 — On Jan 23, 2010

I have a nine month old son who has had weight problems since birth and they kept saying it was ftt then it went to his kidneys. They are not working right and now this. what i don't understand is he has a lot of these side effects and this sounds like what it would be so why are they just now running tests to see if this is it?

By anon42601 — On Aug 22, 2009

I think the diagnoses of Metabolic Disorder is being misused. I have a biliary duct disorder affecting my digestion and causing severe pain and weight loss and malabsorption of nutrients I was told at the Mayo Clinic that I needed to lose weight and exercise. I feel they are using this diagnosis to deny care to overweight patients and it is discrimination.

Mary McMahon
Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a...

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