Metabolic disorder



Commonly called as metabolic syndrome.

Most of the foods and drinks people ingest are complex materials that the body must break down into simpler substances. This process may involve several steps. The simpler substances are then used as building blocks, which are assembled into the materials the body needs to sustain life. The process of creating these materials may also require several steps. The major building blocks are


  • Amino acids

  • Fats (lipids)

This complicated process of breaking down and converting the substances ingested is called metabolism.

Metabolism is carried out by chemical substances called enzymes, which are made by the body. If a genetic abnormality affects the function of an enzyme or causes it to be deficient or missing altogether, various disorders can occur. The disorders usually result from an inability to break down some substance that should be broken down, allowing some intermediate substance that is often toxic to build up, or from an inability to produce some essential substance. Metabolic disorders are classified by the particular building block that is affected.

Some hereditary disorders of metabolism (such as phenylketonuria and lipidoses) can be diagnosed in the fetus by using amniocentesis or chorionic villus sampling (see Genetic Disorders Detection: Chorionic Villus Sampling). Usually, a hereditary metabolic disorder is diagnosed by using a blood test or examination of a tissue sample to determine whether a specific enzyme is deficient or missing.

Disorders of Amino Acid Metabolism

Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing can result from defects either in the breakdown of amino acids or in the body's ability to get amino acids into cells. Because these disorders cause symptoms early in life, newborns are routinely screened for several common ones. In the United States, newborns are commonly screened for phenylketonuria, maple syrup urine disease, homocystinuria, tyrosinemia, and a number of other inherited disorders, although screening varies from state to state.

Disorders of Carbohydrate Metabolism

Carbohydrates are sugars. Some sugars are simple, and others are more complex. Sucrose (table sugar) is made of two simpler sugars called glucose and fructose. Lactose (milk sugar) is made of glucose and galactose. Both sucrose and lactose must be broken down into their component sugars by enzymes before the body can absorb and use them. The carbohydrates in bread, pasta, rice, and other carbohydrate-containing foods are long chains of simple sugar molecules. These longer molecules must also be broken down by the body. If an enzyme needed to process a certain sugar is missing, the sugar can accumulate in the body, causing problems.

Disorders of Lipid Metabolism:

Fats (lipids) are an important source of energy for the body. The body's store of fat is constantly broken down and reassembled to balance the body's energy needs with the food available. Groups of specific enzymes help the body break down and process fats. Certain abnormalities in these enzymes can lead to the buildup of specific fatty substances that normally would have been broken down by the enzymes. Over time, accumulations of these substances can be harmful to many organs of the body. Disorders caused by the accumulation of lipids are called lipidoses. Other enzyme abnormalities prevent the body from converting fats into energy normally. These abnormalities are called fatty acid oxidation disorders.

Most metabolic disorders are inherited, which means they are passed down through families. Examples of metabolic disorders include adrenoleukodystrophy (ALD), alkaptonuria, cystinosis, DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome), glucose 6-phosphage dehydrogenase (G6PD) deficiency, hyperornithinemia-hyperammonemia-homocitrullinuria (HHH), inborn errors of urea synthesis, Kearns-Sayre, maple syrup urine disease, McArdle's disease, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) syndrome, metabolic syndrome, phenylketonuria (PKU), pyruvate carboxylase deficiency, subacute necrotizing encephalopathy, Tay-Sachs disease, and trimethylaminuria.

Metabolic syndrome is quite common. Approximately 20%-30% of the population in industrialized countries have metabolic syndrome. By the year 2010, the metabolic syndrome is expected to affect 50-75 million people in the US alone.

Metabolic syndrome is worth caring about because it is a condition that can pave the way to both diabetes and heart disease, two of the most common and important chronic diseases today.

Metabolic syndrome increases the risk of type 2 diabetes (the common type of diabetes) anywhere from 9-30 times over the normal population. That's a huge increase. As to the risk of heart disease, studies vary, but the metabolic syndrome appears to increase the risk 2-4 times that of the normal population.

There are other concerns as well that should be mentioned. Metabolic syndrome is associated with fat accumulation in the liver (fatty liver), resulting in inflammation and the potential for cirrhosis. The kidneys can also be affected, as there is an association with microalbuminuria -- the leaking of protein into the urine, a subtle but clear indication of kidney damage.

Other problems associated with metabolic syndrome include obstructive sleep apnea, polycystic ovary syndrome, increased risk of dementia with aging, and cognitive decline in the elderly.


If you have metabolic syndrome, you have several disorders of the metabolism at the same time, including obesity (usually around your waist), high blood pressure, high cholesterol levels, and resistance to insulin.

Causes and Risk factors:

As is true with many medical conditions, genetics and the environment both play important roles in the development of the metabolic syndrome.

Genetic factors influence each individual component of the syndrome, and the syndrome itself. A family history that includes type 2 diabetes, hypertension, and early heart disease greatly increases the chance that an individual will develop the metabolic syndrome.

Environmental issues such as low activity level, sedentary lifestyle, and progressive weight gain also contribute significantly to the risk of developing the metabolic syndrome.

Metabolic syndrome is present in about 5% of people with normal body weight, 22% of those who are overweight and 60% of those considered obese. Adults who continue to gain five or more pounds per year raise their risk of developing metabolic syndrome by up to 45%.

While obesity itself is likely the greatest risk factor, others factors of concern include:

  • Women who are post-menopausal.

  • Smoking.

  • Eating an excessively high carbohydrate diet.

  • Lack of activity (even without weight change).

  • Consuming an alcohol-free diet.


Metabolic disorders are difficult to diagnose because there are thousands of them and symptoms can mimic more common diseases or conditions. The key to accurate diagnoses for these patients has been the multidisciplinary coordination among medical specialties, a thorough assessment of signs and symptoms, and state-of-the-art testing.

To determine whether symptoms are caused by metabolic disorders, patient evaluations may include:

Neurological Assessments: Children with developmental delays or loss of previous developmental milestones, such as the loss of the ability to sit or stand, will be assessed by pediatric specialists through various tests, including an extensive physical exam and screenings for vision, hearing, heart and liver. The exam will include a detailed medical history provided by the parents on the child's development and medical history of the extended family. The medical team is led by specialists within Mayo's Pediatric Neurology Subspecialty Group.

Older children, teens and adults may receive neuropsychological testing in addition to physical assessments. Adults are assessed initially by an adult neurologist who may recommend a neurometabolic consultation.

Blood and Urine Testing: Blood and/or urine samples are used for genetic testing to identify biochemical abnormalities or mutations that cause metabolic disorders.

Genetic Counseling: Patients diagnosed with a metabolic disorder and their families will receive counseling from medical specialists in genetics to explain the diagnosis and the role of inherited genes. It is highly recommended that, for patients with metabolic disorders, other family members receive genetic counseling and testing.

Magnetic Resonance Imaging (MRI): Magnetic resonance imaging (MRI) allows detailed imaging of the brain. MRI has greatly enhanced the ability to detect abnormalities in the brain that could indicate a metabolic disorder. MRI may be used to determine whether the patient has a metabolic disorder or to measure how the metabolic disorder has affected the brain. A typical MRI takes about 45 minutes.

MR Spectroscopy: MR spectroscopy is a new technique to detect chemicals in the brain which may indicate a metabolic disorder. Performed during an MRI, the technique adds about 20 minutes to the procedure.

Spinal Tap (Lumbar Puncture): A needle is inserted into the spine at the lower back (lumbar) to collect cerebrospinal fluid (CSF). The fluid can be checked for evidence of a metabolic disorder.

Electromyogram (EMG): This test measures the tiny electrical discharges produced in muscles, which may be affected by a metabolic disorder. A thin-needle electrode is inserted into the muscle and an instrument records the electrical activity of the muscle at rest and contracted.


The major goals are to treat both the underlying cause of the syndrome, and also to treat the cardiovascular risk factors if they persist. The majority of people with metabolic syndrome are overweight and lead a sedentary lifestyle.

Lifestyle modification is the preferred treatment of metabolic syndrome. Weight reduction usually requires a specifically tailored multifaceted program that includes diet and exercise. Sometimes medications may be useful.

Diet: A detailed discussion of diet therapies, pros and cons of various diets etc. However, there is now a trend toward the use of a Mediterranean diet -- one that is rich in "good" fats (olive oil) and contains a reasonable amount of carbohydrates and proteins (such as from fish and chicken). The Mediterranean diet is palatable and easily sustained. In addition, recent studies have shown that when compared to a low fat diet, people on the Mediterranean diet have a greater decrease in body weight, and also had greater improvements in blood pressure, cholesterol levels, and other markers of heart disease -- all of which are important in evaluating and treating metabolic syndrome.

Exercise: A sustainable exercise program, fore example 30 minutes five days a week is reasonable to start, providing there is no medical contraindication. (If you have any special concerns in this regard, check with your doctor first.) There is a beneficial effect of exercise on blood pressure, cholesterol levels, and insulin sensitivity, regardless of whether weight loss is achieved or not. Thus, exercise in itself is a helpful tool in treating metabolic syndrome.

Cosmetic surgery to remove fat: Some people may ask: Why not just have liposuction of the abdomen and remove the large amount abdominal fat, which is a big part of the problem? Data thus far shows no benefit in liposuction on insulin sensitivity, blood pressure, or cholesterol. As the saying goes, "If it's too good to be true, it probably is." Diet and exercise are still the preferred primary treatment of metabolic syndrome.

If someone has already had a heart attack, their LDL ("bad") cholesterol should be reduced below 100mg/dl. (Some experts now say it should be under 70mg/dl.) A person who has diabetes has a heart attack risk equivalent to that of someone who has already one and so should be treated in the same way. What remains controversial is whether metabolic syndrome should be considered a coronary equivalent or not. If you have metabolic syndrome, a detailed discussion about lipid therapy is needed between you and your doctor, as each individual is unique.

Blood pressure goals are generally set lower than 130/80. Some blood pressure medications offer more than simply lowering blood pressure. For example, a class of blood pressure drugs called ACE inhibitors has been found to also reduce the levels of insulin resistance and actually deter the development of type 2 diabetes. This is an important consideration when discussing the choice blood pressure drugs in the metabolic syndrome.

The discovery that a drug prescribed for one condition, and has other beneficial effects is not new. Drugs used to treat high blood sugar and insulin resistance may have beneficial effects on blood pressure and cholesterol profiles. A class of drugs called thiazolidinediones [pioglitazone (Actos) and rosiglitazone (Avandia)] also reduce the thickness of the walls of the carotid arteries.

Metformin (Glucophage), usually used to treat type 2 diabetes, also has been found to help prevent the onset of diabetes in people with metabolic syndrome. Indeed, in my practice, I routinely discuss metformin with my patients who have metabolic syndrome. Many of my patients who have insulin resistance associated with metabolic syndrome opt for metformin therapy. However, there are currently no established guidelines on treating metabolic syndrome patients with metformin if they do not have overt diabetes.

Alternative Therapies Include:

Nutrition and Vitamins (Co-factor Therapy): Many patients will benefit from a diet which eliminates substances that trigger the metabolic disorder. Some patients need to avoid fasting in order to control symptoms of their metabolic disorder. For example, some patients have seizures if they go too long without eating. Good general nutrition and growth are important for all patients with metabolic disease.

Another treatment option is co-factor therapy, in which vitamins or other substances are used to reduce the impact of the metabolic disorder on the body. The response to this therapy varies among patients.

Electrocardiogram or Echocardiogram: For patients at risk of developing heart problems as a result of a metabolic disorder, an annual electrocardiogram (EKG) is often recommended. An EKG records the electrical activity that generates a heartbeat in the heart. During the EKG test, the patient has several patches (electrodes) placed on the chest, arms and legs. The electrodes are connected to wires (leads), which are connected to the EKG machine to measure the heart activity. If heart problems are present, an echocardiogram may be performed. Patients with heart problems are treated by cardiologists.

Physical Therapy, Medication and Surgery: Patients with metabolic disorders which affect the nerves and muscles may benefit from physical therapy or surgery to relieve symptoms and pain. Certain metabolic disorders respond to treatment with medication.

Bone Marrow Transplant: Bone marrow transplant may be an option to help slow or halt the progression of certain metabolic disorders. It has only shown benefit for patients in the early stages, making early diagnosis critical.

Commonly prescribed drugs for metabolic disorders depending upon the conditions include:

    Vitamin C Oral.

  • Ascorbic Acid Oral.

  • Buffered Vitamin C Oral.

  • Cecon Oral.

  • C-500 Oral.

  • Ascorbic Acid Inj.

  • C-250 Oral.

  • Mega-C/A Plus Inj.

  • Protexin Oral.

  • Cemill-1000 Oral.

  • C-1000 Oral.

  • C-Liquid Oral.

  • Ascor L 500 Inj.

  • Ascorbic Acid with Rose Hips Oral.

  • C-1000 with Rose Hips Oral.

  • Vitamin C with Acerola Oral.

  • Natural Vitamin C-Rose Hips Oral.

  • Ascor L NC Inj.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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