Disease Relevance
Researchers are exploring enzyme substitution therapy using PAL to treat phenylketonuria (PKU), an autosomal recessive genetic disorder in humans in which mutations in the phenylalanine hydroxylase (PAH, EC 1.14.16.1) gene inactivate the enzyme. This leads to an inability of the patient to metabolize phenylalanine, causing elevated levels of Phe in the bloodstream (hyperphenylalaninemia) and mental retardation if therapy is not begun at birth. Treatment in mouse models using recombinant PAL has been shown to lower plasma Phe level, converting L-Phe to harmless metabolites that can be excreted. In order to reduce the immunogenicity of PAL, the enzyme is modified by PEGylation. This process disguises the introduced PAL from the host’s immune system and can lead to a longer and more effective reduction in blood Phe levels than non-modified PAL.
Current treatment for PKU requires patients to adhere to a specific diet their whole life, which can be difficult to maintain and may contribute to birth defects if pregnant patients are not careful enough. Therefore, continued research into the development of enzyme therapy using PAL is of interest for the medical community.
PAL may also be used in the treatment of certain forms of mouse neoplastic tumors.
Read more about this topic: Phenylalanine Ammonia-lyase
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