DIAGNOSTIC ASSAY FOR CLASSIC INBORN GALACTOSEMIA

Organization Name

Inventor(s)

Pankajavalli Thirugnanasambantham of Columbus OH (US)

DIAGNOSTIC ASSAY FOR CLASSIC INBORN GALACTOSEMIA - A simplified explanation of the abstract

This abstract first appeared for US patent application 18530750 titled 'DIAGNOSTIC ASSAY FOR CLASSIC INBORN GALACTOSEMIA

The present disclosure describes a diagnostic assay for detecting classic inborn galactosemia by detecting defective galactose metabolism using a substrate-specific recombinant phosphatase.

The assay detects classic inborn galactosemia by analyzing galactose metabolism.
It utilizes a recombinant phosphatase derived from a specific substrate.
The technology provides a more accurate and efficient method for diagnosing galactosemia.
This innovation can lead to earlier detection and treatment of the condition.
The assay offers a potential solution for improving the management of classic inborn galactosemia.

Potential Applications: - Medical diagnostics - Genetic testing - Newborn screening programs

Problems Solved: - Early detection of classic inborn galactosemia - Improved accuracy in diagnosis - Enhanced treatment outcomes

Benefits: - Faster and more accurate diagnosis - Early intervention for better patient outcomes - Potential to reduce long-term health complications

Commercial Applications: Title: Diagnostic Assay for Classic Inborn Galactosemia: Commercial Potential and Market Impact Description: This technology can be utilized by medical laboratories, hospitals, and genetic testing companies to offer improved diagnostic services for classic inborn galactosemia, potentially leading to increased demand for genetic testing services.

Questions about Diagnostic Assay for Classic Inborn Galactosemia: 1. How does this diagnostic assay differ from traditional methods for detecting galactosemia? - The diagnostic assay utilizes a recombinant phosphatase derived from a specific substrate, providing a more targeted and accurate approach to detecting classic inborn galactosemia. 2. What are the potential implications of early detection and treatment of classic inborn galactosemia? - Early detection and treatment can lead to better health outcomes, reduced long-term complications, and improved quality of life for individuals with the condition.

Original Abstract Submitted

The present disclosure relates to a diagnostic assay to detect classic inborn galactosemia. The assay comprises detecting defective galactose metabolism using a substrate-specific recombinant phosphatase derived from