Metabolism is the set of biochemical reactions that take place in the cells of the human body. In particular, the body uses various nutrients to prevent, produce, maintain or break down, depending on its energy needs. This process is called metabolism and is divided into catabolism and anabolism. In catabolism, nutrients break down into smaller portions (eg proteins in amino acids) and energy is released, while in anabolism there is a composition of substances (eg carbohydrates make up glycogen) and energy binding. Disorders of these processes cause metabolic diseases.
What is a Metabolic Disease?
Metabolic diseases involve disorders of the metabolism of amino acids, fatty acids, carbohydrates and can be categorized to:
- Emergency or non hereditary metabolic diseases such as osteoporosis, rickets, osteomalacia, obesity, disorders of glucose metabolism (hypoglycemia, diabetic ketoacidosis, diabetic non-ketoacids syndrome), thyroid function disorder (Thyreotoxic crisis Myxoidimatiko coma) dyslipidemia, hepatic encephalopathy, uremic syndrome , Vitamin D disorders, etc.). The range of emergency metabolic diseases is extremely broad and complex, with a remarkable degree of severity in their clinical manifestations.
- Hereditary metabolic diseases or endogenous metabolic disorders, i.e hereditary biochemical disorders of human metabolism that are the result of certain gene mutations. (Familial Hypercholesterolemia, Vlenopolysakcharidosi Formula I or II, or in III, or IV, or V, or VI, or VII, Phenylketonuria, alkaptonuria, Adrenoleukodystrophy, Maple Syrup Urine Disease, Alagille Syndrome, Fanconi syndrome, hyperinsulinemic hypoglycaemia, Disease Fabry, Gaucher Disease Formula I or II, or in III, Pompe Disease, Gitelman syndrome, Bartter syndrome, glutaric aciduria, Niemann – Pick Disease Type A, or B, or C, cystic fibrosis, etc.). They are over 1300 Different hereditary metabolic diseases and this number is constantly increasing.
As far as urgent metabolic diseases are concerned, their manifestation is largely related to dietary habits without, of course, excluding gene causes. Non-hereditary metabolic diseases may occur at any age, however, they occur more frequently in adult individuals of both sexes. It has also been observed that most incidents are found in modern urban centers.
On the other hand, for hereditary metabolic diseases, it is remarkable that the frequency of each disease is low, however, it is concerned as a high-frequency disease group and is estimated to affect 1 in 500-1000 newborns and account for about 20% of genetic diseases. They may occur at any age, from infancy to old age.
Were are the Metabolic Diseases due to?
They are due to lack or dysfunction of the enzymes involved in metabolism. When there is a problem with the function of an enzyme, then it is not possible to participate in this chemical reaction, which results in the accumulation of substances that are not metabolized and most of the time are toxic to the organism. Also, stopping the reaction results in not forming other substances that are necessary for the body.
Especially in non-hereditary metabolic diseases, the lack or dysfunction of enzymes involved in metabolism is the result of many factors such as poor eating habits, inappropriate and unnecessary use of medicinal substances, in particular cellular toxic load, the presence of heavy metals in the body, smoking etc.
What are enzymes?
Enzymes or biocatalysts are specific proteins or protein-based complex organic compounds (except RNA catalase that is a non-protein enzyme), consisting of amino acid polymers, and act as catalysts in biochemical reactions that occur in organ metabolism.
Most enzymes accelerate the reaction millions of times. If there were no enzymes, it would not be possible to have life, as a biochemical reaction that takes place in seconds with the presence of the enzyme would take perhaps years to complete with the absence of the enzyme. It is therefore understandable how important enzymes are to cellular function and therefore to the good health of the body.
Chance of a having a Metabolic Disease
The probability of occurrence of a hereditary metabolic disease is 25% in each pregnancy when both parents have pathological genes responsible for such a condition. In such a case, if the child inherits only one pathological gene, it has no problem. If, however, it inherits two pathological genes, then it will manifest the disease. Accurate statistics for each disease are available only for diseases that are massively controlled by neonatal age (eg phenylketonuria, which is one of the most common metabolic diseases in Greece – about 1: 10,000 births).
With regard to non-metabolic diseases, people who follow a lifestyle that contains poor eating habits, lack of physical activity, drinking excessive amounts of alcohol, smoking, staying or working in a toxic environment are highly likely to develop a non-hereditary metabolic disease.
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:
- In those that cause symptoms perinatal or after a few weeks of life.
- 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.