REALTIME, PATIENT-SIDE, MONITORING OF INHERITED METABOLIC DISORDERS
Inherited metabolic disorders refer to different types of medical conditions,
caused by genetic defects that interfere with the body’s metabolism.
Metabolism is the complex set of chemical reactions that your body uses to maintain life, including energy production. When these chemical processes don’t work properly due to a hormone or enzyme deficiency, a metabolic disorder occurs.
Utilising proprietary enzyme technology and advanced optical systems, AllWorth Diagnostics has developed a one step, hand held monitoring system ALLDx for the monitoring of Metabolic disorders in less than 1 minute, focusing initially on Phenyketoneuria (PKU) , Galactosaemia (GAL) and Maple Syrup Urine Disease (MSUD)
Phenylketonuria (PKU) is a result of an enzyme defect that prevents metabolism of the amino acid phenylalanine. PKU can cause mental and motor retardation, poor growth and seizures. Early detection and frequent monitoring with proper dietary treatment patients with PKU should be expect to live a normal life.
Maple Syrup Urine Disease (MSUD)
Maple Syrup Urine Disease (MSUD) is a result of a deficiency of the enzyme affecting the metabolism of branched-chain amino acids. MSUD can lead to progressive neurological problems, acidosis, seizures and sudden apnoea that can rapidly lead to coma and death. Early detection and frequent monitoring with strict dietary treatment can prevent severe mental retardation and death.
Galactosaemia (GAL) results from a deficiency in the enzyme needed to metabolise galactose (a component of milk sugar) The disorder may result in developmental retardation, growth failure, cataracts and in severe cases death. With early detection frequent monitoring and a strict galactose-free diet, patients diagnosed with GAL can achieve satisfactory general health.
If you would like more information, please contact us today