Diagnosing a condition as early as possible is crucial in galactosemia to minimize complications. At Protheragen, we strive to develop novel IVD products for the early detection and effective management of galactosemia. We follow a strict set of quality criteria during every phase of our product development so that the accuracy, reliability, and reproducibility of the results will meet the diagnostic standards.
Introduction to Galactosemia
Galactosemia is an exceptionally uncommon inherited condition that hinders the processing of galactose, a sugar present in milk and dairy products. This disorder stems from the lack of an enzyme associated with the pathway of galactose metabolism, most frequently galactose-1-phosphate uridylyltransferase, or GALT. As a result, there is a buildup of galactose and its byproducts in the body in the absence of this enzyme which leads to severe medical issues. GALT deficiency caused galactosemia is also termed as classic galactosemia.
| Types |
Causes |
Prevalence |
| Classic Galactosemia (Type I) |
Galactose-1-phosphate uridylyltransferase (GALT) deficiency |
Most severe and common form |
| Galactokinase Deficiency (Type II) |
Galactokinase (GALK) deficiency |
Lower prevalence than type I |
| Epimerase Deficiency (Type III) |
UDP-galactose-4-epimerase (GALE) deficiency |
Rare |
Fig. 1 Galactose metabolism and the pathophysiology of classic galactosemia. (Panis, Bianca, et al., 2024)
Diagnostic Biomarkers for Galactosemia
It is crucial to diagnose galactosemia accurately and timel to achieve effective management and avoid complications. Diagnostic biomarkers serve a vital function in detection and classification as well as treatment evaluation. Here are the primary biomarkers for galactosemia diagnosis:
Galactose-1-Phosphate (Gal-1-P)
In classic galactosemia (Type I), elevated levels of Gal-1-P in red blood cell is a distinctive feature. This marker builds up as a result of GALT enzyme deficiency.
Galactose
Elevated levels of galactose in blood and urinalysis suggest a metabolic defect of galactose. Galactose is usually measured in some newborn screening tests.
Galactitol
Galactitol is formed as a toxic side product when aldose reductase reduces excess galactose. It accumulates in tissues and bodily fluids, contributing to cataracts.
Genetic Biomarkers
Genetic testing helps identify mutations in the GALT, GALK, or GALE genes that are responsible for the enzyme deficiency in galactosemia.
IVD Development for Galactosemia
The diagnosis of galactosemia is particularly challenging, and its complexity underscores the necessity for improved in vitro diagnostic (IVD) solutions. IVDs allow for proper healthcare interventions to be administered, which improves therapeutic outcomes and ultimately saves lives. With respect to galactosemia, IVD development strategies are, for the most part, focused on the following aspects.
Quantitative Biomarker Assays
Evaluation and tracking of galactosemia relies heavily on proper evaluation of specific biomarkers. The galactose-1-phosphate (Gal-1-P), galactose, and galactitol biomarker quantification can be achieved using mass spectrometry (MS) and enzymatic methods.
Enzyme Activity Testing
In verifying the subtype of galactosemia and the corresponding enzyme deficiency, the determination of enzyme activities is very important. Quantum spectrophotometric and fluorometric methods have proven to be very useful for the measurement of GALT, GALK, and GALE activities.
Genetic Testing Solutions
Through genetic testing, the classification of galactosemia can be diagnosed and further analyzed. Accurate diagnosis is achieved with the use of next-generation sequencing (NGS) panels and PCR-based assay which tests for mutations in GALT, GALK, and GALE genes.
Our Services
At Protheragen, we understood how important accurate and reliable diagnostics of rare metabolic disorders is which drove our thorough research on biomarkers of galactosemia. We strive to give fully integrated IVD product development services. Our solutions range from the creation of detection kits for genes and metabolites, to the design of bespoke diagnostic devices which are catered to your research requirements.
Featured IVD Kit Development
- GALT Activity Assay Kit
- GALK Activity Assay Kit
- GALE Activity Assay Kit
- Gal-1-P Quantification Kit
- Galactose Quantification Kit
- Galactitol Quantification Kit
- GALT Gene Detection Kit
- GALK Gene Detection Kit
IVD Product Development Services
Protheragen is focused on improving the diagnosis and management of galactosemia through novel IVD solutions. Should you require further information regarding our services, including pricing, do not hesitate to reach out.
Reference
- Panis, Bianca, et al. "Brain function in classic galactosemia, a galactosemia network (GalNet) members review." Frontiers in genetics 15 (2024): 1355962.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
