Hereditary metabolic disease (MME) are genetic diseases in which the pathological variation of one or more DNA sequences causes an alteration of one or more enzymes responsible for metabolic reaction of the organism. According to that, the metabolic reaction cannot occur, or occurs incompletely or inadequately with the accumulation of toxic substances and/or absence of substances useful or indispensable to the organism.
It is important to point out that, although caused by alterations in genes (and so called "genetic" or "hereditary" disease), metabolic hereditary diseases can appear at birth in any newborn even if they come from a completely healthy family, in which no other member (parents, siblings, grandparents, etc.) has never manifested any metabolic disease. This can happen both because of the particular combination of paternal and maternal genes, and because the mutation of one or more genes can born as a new mutation precisely in the newborn, which therefore doesn't inherit a disease already present in maternal or paternal genes, but instead undergoes a pathological mutation of its genes very early during its intrauterine development, thus developing the pathology. Of course, he himself, will then be able to pass it to his offspring. Hereditary metabolic diseases (MME) are very numerous and are generally classified according to the type of enzymatic deficit that is the basis of metabolic alteration.
Hereditary metabolic disease causes also serious damages as the accumulation of toxic substances or the deficiency of useful substances or energy derived from the oxidation of nutrients (sugars, fats and proteins) causes serious damage mainly to nerve, muscle and heart cells.
In fact, when an enzyme doesn't work and a determinate metabolic reaction cannot occur, a succession of reaction essential for the functioning of the cell, of one ore more organs and so of the total body is blocked. A particularly important group of enzymes works in the so called “intermediate metabolism”, that is in those metabolic reaction indispensable to transform nutrients (sugars, proteins, fats) in energy and in order to face up to the fasting, transforming "reserve" substances (such as liver and muscle glycogen or fats of fatty tissue) in energy. Nerve cells, and therefore the nervous system, are often the first target of these pathological conditions.
Depending on the nature of enzymatic alteration, which can be total or partial, the disease can be established with different degrees of severity, which also includes neonatal death and neurological handicap.
Although in some metabolic deficit early neonatal death or sudden infant death is possible, in most cases the disease manifests itself in first months or years of life. In these situation, diagnosis is usually unfortunately late, because the often generic symptomatology, is confused with that of more common and less serious diseases.
The most serious shapes occur in the first days of life, after the newborn has begun to feed, with very general symptoms such as drowsiness, vomiting, weakness in suction, abnormal movements, convulsions and coma. However there are many intermediate and mild forms, which they don't occur in neonatal age but later, in breastfeed child or infant; first symptoms manifested at the time of weaning , or during febrile infections or poor nutrition. Other rarer forms may appear without acute symptoms, but with a development delay, slowly established, or with degenerative neurological symptoms (loss of acquired abilities).
Since many of hereditary metabolic disease are caused by the intake of common foods (like breast milk), from the change of feeding (as it happens during weaning) or, on the contrary , from fasting or poor feeding (as can happen for a banal episode of fever or a mild disease, such as a simple cold), it is evident that they need to be diagnosed early, so that they can be treated with a right therapy or with an appropriate diet even before symptoms and consequences of the disease appear,
Early diagnosis of one of the disease present at birth can allow to establish a timely treatment and so make the difference between life and death, between disability and a normal physical development. This is, in summary, the principal advantage deriving from the choice to subject your own child to babygenome™ test.
This test can be also useful to know the gene picture of the couple prospecting a future pregnancy.
Considering that the symptoms of metabolic diseases are often not evident at birth and many times are not expressed until late age or are expressed when the disease is already advanced, is very important to determine their presence as soon as possible, to avoid the consequences and apply the appropriate treatments in order to minimize damages.
Being a test based on DNA analysis, babygenome™, unlike classical biochemical metabolic screening , provides certain results, without the risk of false positive or false negative, that would require the repetition of the test and the consequent delay of the effective diagnosis.
babygenome™ test can be required:
To integrate the neonatal classic metabolic screening (biochemical)
In Italy, the standard neonatal screening, to which all babies are subjected immediately after birth, is able to detect a small percentage of genetic diseases. In addition, this type of test can give rise to false positive or false negative due to several factors. In addition to these problems it is necessary to consider that some metabolic disease has abnormalities that manifest themselves late and cannot be detected by neonatal screening despite the disease is already underway.
Babygenome™ test's approach is different , because the possible presence of diseases can be detected through DNA analysis.
In premature children or children suffering from diseases for which hospitality in neonatal intensive care, classic metabolic tests performed on these particular patients provide very often false results due to unstable metabolic status and due to the drugs' administration. This problem can be avoid by subjecting hospitalized children to the babygenome™ genetic test, in order to obtain reliable and safe results quickly .
In case of abnormal results of classical neonatal screening (biochemical)
If the results obtained from the metabolic classic neonatal screening are positive or borderline for a disease it is useful to follow a quick genetic check by subjecting the newborn to babygenome™ test. As this is a test based on DNA analysis, the doctor can compare the two reports and establish whether the child is actually suffering from the disease or the results of classical screening are false positives.
In case of an unclear clinical picture
The doctor may require the babygenome test™ for a patient who has signs and symptoms related to a metabolic pathology but for whom a precise diagnosis has not yet been made.
Before a pregnancy
For a couple that is planning a pregnancy it is important to know both genetic characteristics related to hereditary disease and understand their reproductive risk.
Knowing your genetic picture is basic: through babygenome™ test it is possible to make sure whether the couple is carriers of gene anomalies that could lead to the development of a certain disease in the child.
in addition to your report, you will receive the raw data of your DNA, the list of the 700,000 personal variants detected, in a standard format, which can be used to obtain further reports in the future, also from other personal genomics companies
keep them forever!
in addition to babygenome™ report, you receive your raw data, which you can use in this or future orders to purchase additional reports without paying genotyping costs!
you can also use the raw data with other personal genomics companies
if you have already purchased, in this order or in the past, other nowgenome™ tests with genotyping, or if you have your raw data provided by another personal genomics company such as 23andme, Ancestry.com, FTDNA, MyHeritage, 24Genetics and others, you do not need to repeat the lab test:
we can analyze your already available raw data to elaborate the babygenome ™ report,
and you can save money!
to obtain information about the risk of developing complex diseases, the genetic oncological risk, the carrier status for genetic diseases, the pharmacogenomics, and about traits related to nutrition, allergies and intolerances, fitness, skin, aging and cosmetics, personality, ancestry
go to total babygenome™
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