Adverse health outcomes are either adapted or innate. The latter however is a consequence of genetic disorders, where specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate or fat intake. These disorders hence earn the term Inborn Errors of Metabolism or IEM.
What this disorder does is reduce or negate the activity of enzymes, thereby triggering the build-up of toxic compounds in the blood and brain or deficiency of compounds, resulting in adverse health outcomes.
Nutritional interventions can bypass or overcome the metabolic consequences for some IEM, but may not be as meticulous in treating those effects as early diagnosis proves to be. In many cases, nutritional interventions are the primary therapies used to manage these disorders and are required lifelong.
In layman terms, inborn errors of metabolism are rare genetic disorders in which the new born’s body cannot break down food into energy, thereby resulting in food accumulation leading to various conditions such as fructose intolerance, galectosemia, maple sugar urine disease, phenylketonuria, and so on, often uncontrollable in later stages.
New Born Screening (NBS) involves the screening of newborns on their first days, for certain disorders that can hinder their normal development. These disorders, are not apparent at the time of the baby’s birth, but have the potential to cause permanent neurological, cognitive, tactile and physical damage in the child.
48 hours after a baby is born, a small amount of blood sample is collected by pricking the baby’s heel, and the sample is then sent to a laboratory for analysis. In a week’s time the test results are sent to the neonatologist or paediatrician for further evaluation. If the tests arrive positive, confirmatory tests are recommended and treatment begins at the earliest for proper management of the disease.
When it comes to detecting congenital disorders in newborns, Labsystems Diagnostics provides a wide range of Newborn Screening (NBS) products, including Modular & Fully Automated NBS Instrumentation and reagent kits.