2. Disease Areas
  3. Metabolic or Endocrine Disease
  4. Amino Acid/Protein Metabolism
  5. Phenylketonuria

Phenylketonuria

Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by mutations in the phenylalanine hydroxylase gene, leading to deficient enzyme activity and subsequent accumulation of phenylalanine in the blood and tissues. This buildup results in neurotoxic effects, causing severe intellectual disability, developmental delays, seizures, eczema, light-colored skin and hair, and a distinctive musty odor in breath, sweat, or urine if left untreated. PKU affects approximately 1 in 15,000 newborns worldwide and is typically diagnosed through newborn screening. Early detection and strict lifelong management with a low-phenylalanine diet are essential to prevent irreversible neurological damage. Maternal PKU poses significant risks to fetal development, including intellectual disability, congenital heart defects, and low birth weight, underscoring the importance of metabolic control during pregnancy. The condition is part of a broader spectrum of hyperphenylalaninemia disorders, with severity correlating to phenylalanine levels. With proper dietary intervention and regular monitoring, individuals with PKU can achieve normal cognitive development and improved quality of life.

Phenylketonuria (5):

Cat. No. Product Name CAS No. Purity Chemical Structure
  • HY-W015590
    2-Hydroxyphenylacetic acid 614-75-5 98.79%
    2-Hydroxyphenylacetic acid is a metabolite of Phenylalanine and Tyrosine, as well as a product of the biotransformation of Phenylacetonitrile by marine fungi. 2-Hydroxyphenylacetic acid acts as a potential biomarker for food. 2-Hydroxyphenylacetic acid slightly induces the expression of green fluorescent protein. 2-Hydroxyphenylacetic acid is used in the research of phenylketonuria and related hyperphenylalaninemia.
    2-Hydroxyphenylacetic acid
  • HY-179107
    SLC6A19-IN-3 3104477-57-5
    SLC6A19-IN-3 (Compound 83-P1-P2) is a potent, selective and orally active SLC6A19 inhibitor with an IC50 of 28 nM. SLC6A19-IN-3 can block SLC6A19-mediated transmembrane transport of phenylalanine, reducing intestinal absorption of phenylalanine from food and renal tubular reabsorption of phenylalanine. SLC6A19-IN-3 can be used for the research of metabolic disease, such as phenylketonuria.
    SLC6A19-IN-3
  • HY-158161
    SLC6A19-IN-1 3032920-98-9
    SLC6A19-IN-1 is a potent and highly selective inhibitor and transport corrector of human SLC6A19 (IC50=47 nM). Furthermore, at a concentration of 35 μM, SLC6A19-IN-1 exhibits no activity against SLC1A5, SLC7A5, or SLC6A8. SLC6A19-IN-1 is applicable to research on phenylketonuria (PKU) and hyperphenylalaninemia. SLC6A19-IN-1 is also suitable for studies related to various metabolic disorders, including tyrosinemia, maple syrup urine disease, urea cycle disorders, and hyperammonemia.
    SLC6A19-IN-1
  • HY-P2951
    Phenylalanine ammonia-lyase 9024-28-6
    Phenylalanine ammonia-lyase is a non-mammalian enzyme converting phenylalanine into trans-cinnamic acid and ammonia. Phenylalanine ammonia-lyase can be used in the research of phenylketonuria.
    Phenylalanine ammonia-lyase
  • HY-179581
    SLC6A19-IN-4 2962069-39-0 99.55%
    SLC6A19-IN-4 is an allosteric-competitive and orally active B0AT1 inhibitor. SLC6A19-IN-4 inhibits both human and mouse B0AT1 with IC50 values of 513 nM and 295 nM, respectively. SLC6A19-IN-4 exhibits excellent metabolic stability. SLC6A19-IN-4 significantly increases urinary phenylalanine (Phe) excretion and reduces plasma Phe levels through dual inhibition of B0AT1 in both the intestine (reducing absorption) and kidney (promoting excretion) in vivo. SLC6A19-IN-4 can be used for phenylketonuria (PKU) and other disorders involving SLC6-family transporters research.
    SLC6A19-IN-4