Multiomics & Metabolics

Metabolism is a term for the all of the chemical reactions that occur in the process of continuous destruction and rebuilding of body tissues, occur in the body to sustain life and normal functioning.  All chemical reactions in all organisms are under the control of genes. Most of these chemical reactions occur in more than one intermediate step. The reaction at each intermediate step is facilitated and catalyzed by an enzyme controlled by a different gene. A mutation in a gene causes cells to be unable to perform a certain intermediate chemical reaction which cause a Metabolic Disease or Metabolic Disorder.

Metabolism Pathway: Food is made up of proteins, carbohydrates, and fats. Our digestive system breaks down food into sugars and acids in a way that is suitable for our body's functions and use. Our bodies can use the broken down foods immediately or store them in body tissues such as the liver, muscles, and adipose tissue. There are different groups of metabolic diseases that occur in the body as a result of disorders in the processing of proteins, carbohydrates and fats. In metabolic diseases, too much or too little of some substances may accumulate in the body and disrupt the body’s metabolism. 

For example, diabetes interferes with how the body uses or regulates the hormone insulin. Insulin helps glucose to enter cells around the body and provide energy. It also allows the body to store glucose in muscle or liver tissue, when insulin does not work properly it cause the Diabetes which is the most common metabolic disorder. 

Another group of metabolic diseases are mitochondrial diseases and affect the energy-producing parts of cells.

Metabolic Diseases

The severity of inherited metabolic diseases varies from patient to patient. The disease can start in the fetus, as well as it can occur at different ages during the life. There are also metabolic diseases that affect sexual development. With exceptions, they mostly show recessive inheritance and the risk of having sick children increases in consanguineous marriages.

The Metabolic disorders include a range of conditions that cause different symptoms and complications within the body include vomiting, growth and developmental retardation, frequently getting infections and inability to balance the body temperature. Symptoms can range to jaundice, abnormal odor, liver enlargement, unexplained seizures, liver dysfunction, muscle dysfunction, malnutrition, and coma.

Genetics of Metabolic Disorders

Inherited metabolic disorders are the defect in genes passed down from parents to children. These defects and changes in the genes  can cause a deficiency in hormones or enzymes which results in a metabolic disease. 

In most hereditary metabolic disorders, both parents of the affected child carry a copy of the affected gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder but it can effect the child. 

There are variety of metabolic disorders, some of the more common and important include: Niemann-Pick disease, Gaucher disease , Fabry disease , Phenylketonuria (PKU), Glycogen storage diseases, Mitochondrial disorders etc. 

Diagnosis of Hereditary Metabolic Disorders

If the parents are suspected, carrier or have some metabolic disorder, before birth some hereditary disorders of metabolism can be diagnosed in the fetus by using the prenatal screening tests amniocentesis or chorionic villus sampling.

After birth, many of these disorders are detected by routine newborn screening tests. However if the complications of the new born is severe and testing is insufficient new born Genetic Testing Panels can be used to diagnose the diseases. 

In our center, we serve different solutions to help and to diagnose metabolic disorder with  gene panels and multiomic tests. 

With the neonatal panel, a solution is offered with a panel of selected genes, including metabolic diseases, for the critically ill newborns and children under 24 months who are in intensive care units (ICU).

With metabolism errors panel, mostly liver diseases are screened. In addition, some intermediate metabolic disorders that can be resolved with this panel include aminoacidopathy, organic aciduria, urea cycle disorders, sugar intolerance, mental disorders and porphyria.

In recent years, Multiomics (MOx) solutions have also been used in the diagnosis of metabolic diseases. Sequence analysis of the genes determined by the Metabolic MOx panel is performed and enzyme activity testing is performed as a reflex test according to the mutations detected, and a multiomic (multi-directional) solution is offered by analyzing (continuously updated) biomarkers related to the disease.

The Diabetes and Obesity panel offers solutions to many glucose metabolism disorders, including hyperinsulinemic hypoglycemia, neonatal diabetes, young adult diabetes (MODY), adult diabetes, familial hypercholesterolemia, insulin resistance and familial hyperinsulinism.

For more information please contact us.