Metabolic Diseases

Metabolic Diseases

Today I want to talk about a topic much discussed and important: the metabolic diseases.

Often we hear of metabolism, accelerating the metabolism of substances, problems of metabolism … but what is it?

The metabolism is nothing but the set of physical and chemical changes to produce useful energy, to grow, to function properly, in short, to realize all the functions necessary to live. That is why we hear about so often and is so important!

It performs two main tasks: to produce energy from large molecules, such as those that we introduce with the power (lipids, proteins, carbohydrates, etc.) And use energy to build complex molecules useful to cells (amino acids, nucleotides, mono-saccharides, DC.).

Unfortunately, in some cases, metabolism cannot guarantee the success of his work complex. It is metabolic diseases, primarily genetic, involving enzymes, hormones or other substances responsible for the chemical reactions of metabolism and that cause diseases at the level of organs or systems.

Metabolic Diseases
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Let’s see what it is…

Metabolic diseases linked to lifestyle

It is important to distinguish two types of metabolic diseases : those related only to birth defects and those caused as much by genetic factors as by bad lifestyle habits and / or food. Poor nutrition, abuse of drugs, alcohol and smoking, reduced physical activity and more can worsen or trigger the onset of these diseases. Let’s see the most famous …


High amount of sugar in the blood (hyperglycemia) due to a lack of sensitivity to insulin normally produced. The main causes are genetic and environmental factors (diet and lifestyle).

An advice? Associates a protein food with whole grain carbohydrates and vegetables, so you will avoid glycemic peaks and the formation of fat to excess blood sugar.


Accumulation of body fat (for reduced energy consumption) that can result in serious consequences for the person’s health status. It can cause diabetes, cardiovascular problems, high blood pressure, breathing problems, skeletal problems. It is important to note that some drugs may increase the appetite of the patient and therefore increase the incidence of this disease, for example, antidiabetic agents, antidepressants, antiepileptics, antipsychotics, beta-blockers.

An advice? Do not look for the solution in the latest fad diets; look for it in beneficial changes of permanent character in your lifestyle and in your power.


Alteration of fat metabolism. Some dyslipidemias have genetic origin and are constituted by a high production of triglycerides and cholesterol; but can also be caused by sedentary, diabetes, kidney disease, hypothyroidism, excess fats in the diet.

An advice? Help yourself with your fiber intake, legumes and whole grains to allow your body to naturally remove excess fat in the blood.


Deposit uric acid in the form of crystals in the joints resulting in pain, inflammation and swelling of the affected part. This accumulation is due to an excess of uric acid production or at a reduced disposal through urine. Among the causes are unhealthy diet, renal failure, hypertension, obesity, tumors, taking certain medications (such as theophylline, levodopa, diuretics, pain killers).

An advice? The intake of 500 mg per day of vitamin C helps the elimination of uric acid through the urine.


Excessive presence in the blood of the lipid called “cholesterol”, which is useful in physiological quantities but dangerous to your health in case of high amount. Becomes a risk factor for heart disease, heart attack and stroke. It can be correlated with other diseases such as obesity, diabetes or an unhealthy lifestyle (poor diet, smoking, sedentary, etc.).

An advice? Help yourself with nature … the fermented rice with red yeast and soy lecithin are good allies to help you reduce the value of cholesterol in the blood, helped with the nutraceutical !

Metabolic Rare Diseases

The inherited metabolic diseases are rare diseases that account for about 10% of diseases in general. Are diseases caused by a deficiency or malfunction of enzymes or proteins involved in metabolism and can cause:

  • A poor end product of the metabolic pathway
  • Activation of alternative metabolic pathways not always effective
  • A toxic accumulation of substances not metabolized
  • In any case, a pathological situation to treat and diagnose the before possible.

You can diagnose these diseases at birth through newborn screening or through specific exams into adulthood.

I want to remember some classes of metabolic diseases closely linked to power, related to:

  • Carbohydrate metabolism (e.g. pumps syndrome caused by failure resulting in degradation of glycogen accumulation in the muscles)
  • Amino acid metabolism (e.g. phenylketonuria with accumulation of phenylalanine, an essential amino acid)
  • Lipid metabolism (example: familial hypercholesterolemia with cholesterol accumulation, due to a genetic mutation)
  • Metabolism of beta oxidation of fatty acids (example: MAD deficiency, characterized by an abnormal metabolism of amino acids and fatty acids)
  • Purine metabolism and pyrimidine (example: Lesch-Nyhan syndrome or juvenile gout, with accumulation of uric acid and purine nucleotides)
  • Metabolism of metals (example: hemochromatosis with iron accumulation in organs and tissues).

A great help to improve the affected disease is to reduce dietary intake of food is not metabolized or take drugs or enzyme co-factors that help normal metabolic functions.

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