Our metabolism is a complex set of thousands of biochemical reactions used by the human body for a range of life sustaining purposes, including energy production from the food we eat. Each reaction involves multiple molecules including hormones and enzymes. Some people are born with a genetic change that inactivates one or more of these key molecules. These individuals cannot breakdown specific amino acid or carbohydrate constituents of everyday foods. The accumulation of these molecules in the blood stream leads to a range of physical and neurocognitive symptoms. Collectively, these conditions are known as Inherited Metabolic Disorders and include

• Phenylketonuria (PKU)
• Maple Syrup Urine Disease (MSUD)
• Galactosemia
• Homocystinuria
• Tyrosinemia

Diagnosis of the most prevalent Inherited Metabolic Disorders usually occurs in the first few days of life through national screening programs based on the well known heel prick test. Once diagnosed, clinical management for Inherited Metabolic Disorders is life long and is typically based on dietary management, supplementation and often pharmaceutical therapy. Allworth Diagnostics products are monitoring tools, providing the Inherited Metabolic Disorder community with a real time solution to regularly monitor these critical metabolite levels in their blood from the convenience of their home.

Phenylketonuria (PKU) is an Inherited Metabolic Disorder affecting over 450,000 people worldwide. Individuals with PKU lack the enzyme to break down the common amino acid Phenylalanine, prevalent in many everyday foods. This leads to an accumulation of phenylalanine in the blood and a number of physical and neurocognitive symptoms.

Irrespective of treatment method, either through dietary management or pharmaceutical therapy, the goal for clinical management of PKU is maintaining blood phenylalanine levels within a target range.

The current methodology for blood phenylalanine monitoring is based on patients self-collecting dried blood spot samples and mailing them to a centralised laboratory for analysis on a large central lab system. Although this is a long-established method, the process has numerous sources of variation and error and only returns results to patients 4-10 days after they have collected the sample.

Allworth Diagnostic’s Phenylalanine Monitor provides an actionable result from a fingerstick drop of blood in 2 minutes.

The convenience and ease of use of our system provides a key tool for regular, recurrent monitoring with instant result feedback. Use with our smartphone app and cloud-based data management system, allows patients, caregivers and healthcare professionals access to insightful trend analysis to improve clinical management and the quality of care for the PKU community.