0
What is baby metabolic testing. What role do enzymes play in metabolic disorders?
Sammysingh
Baby metabolic testing is the process of testing newborn babies for treatable genetic, endocrinologic, metabolic and hematologic diseases. Newborn screening has been adopted by most countries around the world, though the lists of screened diseases vary widely, anywhere from 1 disorder to more than 100 disorders. Baby metabolic testing are tests for diagnosing a baby with congenital metabolic error. Every newborn baby should take this test at birth.
Metabolism is the sum of the chemical processes and interconversion's that take place in the cells and the fluids of the body. This includes the absorption of nutrients and minerals, the breakdown and buildup of large molecules, the interconversion of small molecules, and the production of energy from these chemical reactions. Virtually every chemical step of metabolism is catalyzed by an enzyme. Disorders of these enzymes that result from abnormalities in their genes are known as inborn errors of metabolism..
In many genetic and metabolic disorders, symptoms don't begin until days or weeks after an infant is born. By the time symptoms appear, damage may already have been done to the nervous system, kidneys, vision, hearing, and other body systems. That's why early detection of these serious disorders in all infants is very important. Diagnosis and treatment of these disorders can reduce the risk of disease, disability, and even death.
Enzymes are a class of proteins that are encoded by genes. Hence errors (technically called mutations) within the genes coding for these enzymes may give rise to defective/non-functional enzymes.
Metabolic enzymes refer to various substances within the body that carry out a variety of functions. Deficiency of metabolic enzymes not only stalls the chemical reaction, rather also affects the absorption of the concerned nutrient; thereby causing a complete disturbance of the metabolic profile of the individual, for the nutrient that is found deficient.
A distinct class of disorders that are identified by the errors in metabolic profile of an individual due to an underlying genetic mutation in metabolic enzymes is called as "Inborn Errors of Metabolism - IEM".
Baby metabolic testing screens for these IEMs and early diagnosis will help in early treatment of disorder. Screening is done after 48hrs of birth and certain laboratory screens these IEM using urine sample.
Wiki User
∙ 13y ago
Add your answer:
Earn +20 pts
Why is urine used as a sample over blood when testing for genetic metabolic disorders?
Urine is the preferred sample when testing for acidemia in metabolic disorders. The general researchers says that the metabolites appear in urine first and take longer to be detected in blood, making the urine sample as the preferred sample for screening and diagnosis of rare 100 metabolic disorders. Metabolites appear first in the urine and later in the blood, making pre-symptomatic detection of metabolic disorders possible from urine sample. Its a Non-invasive process for screening of metabolic disorders, hence its Baby-friendly. Therapy and Management of these disorders at its earliest will help to curb any damage to the baby.
Why are newborns tested for metabolic disorders?
Metabolic disorders are rare disorders routinely tested for in a newborn baby. It is always better to know the presence of these diseases before hand and not after it the child starts showing symptoms for it. To avoid unnecessary suffering to the baby this test is done before for as many as 100 disorders. The disease manifests in many ways , it can also lead to mental retardation in your baby. Metabolic disorders can be screened as early as after 48hrs of birth of that baby. Metabolic disorders lead to irreversible mental damage. Screening for disorders will help in early intervention of therapy and will give a better life to that baby. Nowadays there are screening done from urine sample and for a large range of metabolic disorders.
Are genetic metabolic disorders preventable. Why to screen them at birth?
When it comes to genetic metabolic disorders early detection is the prevention of disease manifestation. You can not prevent a genetic disorder from occurring. Screening at birth by painless urine test can prevent the disease from harming the baby. Metabolic disorders are due to a defect in metabolic pathway as the enzyme catalyzing is defective due to a defect in a gene coding it. This situation can not be corrected but can be effectively managed by diet modifications and special foods. Genetic metabolic disorders are not preventable as they are defective gene that are passed from the parents to their offspring, that why screening at birth for these disorders become important. The parents just carry these genes without showing any signs of the disorders which then becomes evident in the baby after birth. Screening through urine sample for more than 100 metabolic disorders is gaining popularity, which is baby friendly rather than pricking them at the heel. Management of these disorders after screening will help in preventing any irreversible damage to the baby. After about 6 months of my baby's birth, my baby started becoming lethargic and less enthusiastic about feeding or even playing. She only slept all the times. Initially, I did not get too concerned about it, as most babies sleep all the time, but then when I showed her to the ped., he immediately asked me to do a metabolic urine test for 100 disorders, which showed positive and then only after modified diet, did my baby start to thrive. If I had known of this test before and that it could be done at birth, I would have not lost so much of time. While my baby is doing well now, I will always regret the fact that I did not do the urine test at birth. While metabolic disorders are not preventible, doing the simple urine test at birth can save a lot of time and pain for the health of the child.
Is the urine test painful when done to test for genetic metabolic disorder?
Urine test is a painless procedure....not painful the urine test which ur asking is a confirmatory test for metabolic testing and not screening ....screening is to identify high risk cases by urine u get diagnostic results for amino acid metabolic disorders..... and no urine tests are not painful its the heel prick test which is very painful for the baby
Are metabolic disorders hereditary. Can I pass them to my baby?
Metabolic disorders also known as Inborn Errors of Metabolism are due to defect in genes which code for enzymes required for metabolizing food components like carbohydrates, fats and proteins. A person can get defective genes in 2 ways either they are passed on from parents to them or any spontaneous mutation in the chromosome at the time of cell division in the embryonic stage. In either of the cases the individual will suffer from Metabolic disorder. A parent has 2 copies of gene and each parent pass one copy to their child. If the parent passes the defective copy to their child, then the child would develop IEM. So, it is not always possible to pass the defect to your child. Screening at birth by newborn screening for IEM by urine test can diagnose more than 100 metabolic disorders.
Are metabolic disorders more common in consanguineous marriage?
I had a friend who was married to someone within his family and generally such marriages are termed as consanguineous marriage. The chances of the offspring inheriting genetic disorders from such marriages are quite high. infact my friend's baby was diagnosed of a disorder which led to mental disability at the age of 3. In these cases it's better to plan your baby, getting oneself and partner checked by a doctor and getting some pre-natal check from doctor. There are certain check ups even for the baby which can be done post delivery which will help in getting the baby diagnosed of any such genetic disorders right at the time of birth. Baby genetic screening for more than 100 disorders screens newborns for metabolic diseases.
Why is there a need of Newborn screening?
Newborn Screening is done primarily to detect congenital diseases right at birth so that the treatment can be started right as soon as possible. Baby usually looks normal but as it grows develops problems. Usually lot of congenital metabolic disorders present this way as when the baby grows the signs n symptoms appear when the baby's metabolic process starts working. These disorders are very rare but when seen collectively they make a significant chunk of disease. So management of these disorders become very important to lower the infant mortality rate. Diagnosis is very simple by a urine test which can detect more than 100 metabolic disorders. Test results are usually diagnostic and ensures an early start of the treatment.
Are metabolic disorders contagious and can one siblings get affected by other?
Metabolic Disorders like any other infections (cough or cold) are not contagious. However, if the parents are carriers of a defective gene, then there is a high possibility that the disorder may be passed on to more than one child in that family. They are not passed on to each other between siblings. Sometime it might look like that as the disease shows signs and symptoms at various ages. Metabolic disorders are caused by a defective gene leading to faulty enzyme function which is important for metabolism of food component. In this case as the baby grows with faulty metabolism certain compounds gets accumulated in the body leading to abnormal growth and learning pattern. Metabolic disorders are diagnosed by urine test after birth which acts as a preventive cover for 100 disorders. Early diagnosis leads to early management of the disorders.
What is the recommend dose of enzymes for a baby?
There are no set standards for enzymes for babies.
What and who does metabolic birth defect affect?
the baby and the mother
what about stationery testing?
Toys and Baby Products Testing
What does preimplantation genetic diagnosis mean?
"Preimplantation Genetic Diagnosis, also known as genetic testing,is a procedure performed on embryos to determine the possibility of the baby developing inherited genetic disorders and diseases."
