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What Are Neurometabolic Disorders?

Neurometabolic disease is a broad term used to describe a diverse group of disorders that impair central nervous system function. These rare disorders can result from a variety of genetic abnormalities that are characterized by a lack or dysfunction of an enzyme necessary for a specific chemical reaction in the body. 

Our Neurometabolic Disease Testing Approach

As a market leader in the diagnosis of rare inherited neurological disorders, MNG is proud to offer a portfolio of targeted biochemical and genetic tests that concentrate on the detection and analysis of specific molecules in cerebrospinal fluid (CSF) and mutations in DNA responsible for the clinical symptoms of these disorders. MNG’s major focus is movement and seizure disorders but also tests for disruptions in metabolic pathways that are involved in degradation and synthesis of various important molecules serving as building blocks of the cell. 

Cerebrospinal Fluid Testing and Biochemical Testing

MNG’s biochemical tests focus on the detection and analysis of specific molecules in cerebrospinal fluid, plasma, serum, and urine. We specifically examine defects affecting the metabolism of neurotransmitters (serotonin, catecholamines, and gamma-Aminobutyric Acid or GABA), pyridoxal 5’-phosphateamino acids, and folic acid. In addition, we offer CSF sialic acid analysis for disorders of sialic acid metabolism, succinyladenosine as a specific marker for adenylosuccinate lyase deficiency, lactatepyruvateglucose for disorders that disrupt cellular energetics, and neopterin as a marker for central nervous system immune system stimulation. Much of our testing menu focuses on treatable disorders where a diagnosis can have a meaningful impact on patient care. 

Next-Generation Sequencing

To complement our biochemical testing and to further improve on the diagnostic sensitivity of our testing menu, we also offer next-generation sequencing (NGS) panels targeting many of the same biosynthetic and metabolic pathways as our CSF testing. Our Neurotransmitter Metabolism Deficiency focuses on a wide-range of genes integral to proper neuron signaling. We also have specific panels that provide the option for a more focused look at  GABADopamine, and Serotonin metabolism. In addition, our genetic testing portfolio also includes a comprehensive set of NGS panels that investigate metabolic disorders. These include our Comprehensive Cellular Energetics Defects panel as well as panels that detect defects in protein, lipid, and carbohydrate metabolism and biosynthesis of various cofactors and vitamins. The Comprehensive Cellular Energetics Defects panel targets diseases potentially caused by mitochondrial malfunction, and MNG offers metabolism-pathway-specific panels targeting neurometabolic defects.