Phenylketonuria (PKU) is a metabolic disorder caused by a gene mutation. Leveraging our pioneering efforts in PKU research, we stand at the forefront of developing cutting-edge diagnostic tools to enhance the effective management of PKU. As your trusted partner in PKU diagnostic research, we provide unparalleled support to meet your research needs.
Introduction to Phenylketonuria
Phenylketonuria (PKU) is a genetic disorder that impairs the body's capacity to metabolize the amino acid phenylalanine. Individuals with PKU have elevated levels of phenylalanine in their blood and tissues, which can be harmful, particularly to the developing brain. PKU predominantly affects newborns, with an incidence of approximately 1 in 12,000 births worldwide. Prompt identification and continual care are crucial for individuals with PKU to avert the serious outcomes of elevated phenylalanine levels left untreated.
Fig. 1 Phenylketonuria (PKU) pathophysiology. (Borges A C, et al., 2022)
Pathogenesis of Phenylketonuria
Phenylketonuria (PKU) arises from mutations in the PAH gene, responsible for producing the enzyme phenylalanine hydroxylase. In the absence of functional phenylalanine hydroxylase, phenylalanine cannot undergo proper breakdown, resulting in its buildup within the body.
Harms of Phenylalanine Accumulation
Elevated phenylalanine levels can have detrimental effects on the central nervous system, particularly in the developing brain. Phenylalanine serves as a precursor to tyrosine, a crucial element in the synthesis of neurotransmitters such as dopamine and norepinephrine. Excessive phenylalanine can disrupt the balance of neurotransmitters, leading to neurological complications.
Diagnostic Kits for Phenylketonuria
In vitro diagnostics (IVD) play a crucial role in the early detection and management of Phenylketonuria (PKU). Currently, there are a variety of diagnostic kits for PKU on the market, which are of great significance for the early identification and timely intervention of PKU.
| Kits |
Description |
Detection Technology |
| Phenylalanine Testing Kits |
These kits are used to measure the concentration of phenylalanine in a blood sample. |
Fluorescence Detection |
| Enzyme Activity Detection Kits |
These kits focus on measuring the activity of phenylalanine hydroxylase to confirm a PKU diagnosis. |
Spectrophotometry or Fluorescence-based Assays |
| Genetic Testing Kits |
These kits can identify mutations in the PAH gene and help confirm the diagnosis of PKU. |
PCR or NGS |
Our Services
At our company, we specialize in the development of IVD solutions tailored for Phenylketonuria (PKU). Our unwavering commitment is directed towards the creation of cutting-edge PAH gene detection kits and PKU metabolic biomarker detection kits designed to confirm the diagnosis of PKU by multiple means. Through the innovation of complementary diagnostic devices , we aim to facilitate automated diagnosis and effective management of PKU.
IVD Product Development Services
Optional IVD Products
- PAH Gene Testing Kits
- Phenylalanine Hydroxylase Activity Detection Kits
- Phenylalanine Detection Kits
- Primers and Probes
- DNA Extraction Reagents
- PCR Reagents
- Nucleic Acid Extractor
- PCR Instrument
- DNA Sequencer
- And More
To achieve rapid diagnosis and personalized therapies for PKU, we provide point-of-care testing and companion diagnostic development services. These services play a crucial role in enhancing the efficiency and accuracy of PKU diagnostics, enabling personalized care strategies for affected individuals.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Borges A C, Broersen K, Leandro P, et al. Engineering Organoids for in vitro Modeling of Phenylketonuria[J]. Frontiers in Molecular Neuroscience, 2022, 14: 787242.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
