Metabolic Diseases

Metabolic Diseases are disorders of the metabolic processes, that is, of all the biochemical reactions that take place in the cells of the human body.

Disorders of the metabolism of amino acids, fatty acids and carbohydrates during the intake, production, maintenance or breakdown of nutrients, is the cause of the appearance of Metabolic Diseases.

Diabetes mellitus, Obesity, Metabolic Syndrome, Dyslipidemia are among the most well-known Metabolic Diseases.


Diagnosis of Real Causes & Treatments of Metabolic Diseases

  • Gradual restoration of cellular function
  • Personalized therapeutic protocols, without chemical residues and excipients
  • Treating the real causes
  • Therapeutic formulas that work alone or in combination with any other medication
  • Adopting a Molecular / Therapeutic Nutrition Plan


Hereditary Metabolic Diseases

Familial Hypercholesterolemia
Type I, or II, or III, or III, or IV, or V, or VI, or VII type Mucopolysacchari Dosis
Maple Syrup Urine Disease
Alagille Syndrome
Fanconi Syndrome
Hyperinsulinemic Hypoglycemia
Fabry’s Disease
Type I, III, or III Gaucher Disease
Pompe Disease
Gitelman’s Syndrome
Bartter’s Syndrome
Glutaric Acidemia
Niemann Picy Disease – Type A, or B, or C.
Cystic Fibrosis

Hereditary Metabolic Diseases are biochemical metabolic disorders caused by gene mutations resulting in the problematic functioning of one or more enzymes. Enzymes are key-players of normal chemical reactions in our body, in the absence of which substances that cannot be metabolized accumulate and are often toxic to the human body.

They can occur at any age, from infancy to old age.


Clinical symptoms of hereditary Metabolic Signs

If the function that is disturbed by an endogenous metabolic disorder is necessary for the proper functioning of the body, and the degree of disorder is capable of affecting the whole system, we may have the appearance of clinical manifestations.

Their clinical picture is of varying severity, while the onset of symptoms distinguishes the diseases in two general categories:

  1. In those that cause symptoms perinatal or after a few weeks of life.
  2. In those that the symptoms begin months or years after birth.

An inherited Metabolic Disease can be manifested in birth, denial of food, vomiting, convulsions, drowsiness, heart, liver or kidney problems. It may also be that the child is born normally and the symptoms develop after months or years, with unexplained episodes of vomiting, diarrhea, convulsions, somnolence and coma, during an infection or on the occasion of a change in diet. The episode may be related to an event (eg febrile infection, surgery) or after receiving certain foods (eg meat, fruit, milk).

The keyword for clinical suspicion is unexplained, that is, symptoms happen without apparent cause. Also, the patient can visit the doctor for the first time with a particular organ problem (eg cataract), an enlarged liver, spleen, nephrolithiasis, arthritis, heart problems, skin rashes, thromboembolic events, etc. Even when the child appears to develop naturally, it may start to lose its abilities, for example in speech or walking, and sometimes may change his features, becoming ineffective. These patients experience progressive worsening of the symptoms.

In general, clinical symptoms in infancy and childhood include developmental or neurological problems, mental retardation, epilepsy, and problems in several vital organs. Adults may experience hypotonia, myopathy, ataxia, thromboembolic events, etc. It would not be an exaggeration to say that metabolic diseases can affect any organ of the body at any age.

Clinical symptoms of non-hereditary Metabolic Diseases

Depending on the non-hereditary symptom, clinical symptoms  appear, including hypotonia, myopathy, cardiac dysfunction, skin reactions, myopathy, edema, pain, neurological problems, and general lesions in many vital organs, etc.

Why is there not a valid diagnosis of hereditary Metabolic Diseases?

The main reason why hereditary metabolic diseases escape the diagnosis is that they are most often manifested by non-specific symptoms. These diseases are characterized by a wide variety of clinical symptoms. In addition, a hereditary metabolic disease may occur for the first time when the patient is an adult. “It is certain that adult patients pass away, because most physicians do not know that hereditary a metabolic disease can occur at any age. That is, hereditary metabolic diseases are not only pediatric diseases. ”

Diagnosis of Metabolic Diseases

The starting point for the diagnosis of metabolic diseases is clinical suspicion. This is followed by a specialized laboratory investigation that will lead to diagnosis. Metabolic Disease Control is performed by a blood or urine test, based on Tandem MS (mass spectrometry) technology, allowing for rapid detection of many metabolic diseases at the same time. However, without clinical suspicion, no diagnosis can be made, so it is very important that doctors of all specialties are sensitized to metabolic diseases and put them in differential diagnosis. The main reason why metabolic diseases are absent from diagnosis is the low level of clinical suspicion.

Functional Medicine and Non Hereditary Metabolic Diseases

Through the specific examinations made, it is possible to locate the step in the metabolic pathways in which the enzyme dysfunction is expressed and consequently the metabolic disorder. It is therefore possible to give the patient the appropriate treatment to remedy this deficiency and thus to combat the cause of the disorder in the metabolism and therefore the manifestation of the non-hereditary metabolic disease.