苯丙酮尿症微生物治疗的研究进展

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Research Progress in Microbial Therapy for Phenylketonuria/SONG Haochen，CAO Guangxiang，FU Jiafang.//Medical InnovationofChina，2025，22（30）：167-171

[Abstract]Phenylketonuria （PKU） is a genetic metabolic disorder caused by mutations in the phenylalanine hydroxylase （PAH） gene，which can lead to the accumulation of phenylalanine （Phe）and subsequent neural damage. Microbial therapyanemergingtreatment forPKU，involves geneticallyenginering intestinal bacteria todegrade Phein the intestinal tract，therebyreducingitsabsorption into the bloodstream.Itscore strategies include enzyme replacement therapyand local action.Currently，multiple research teams have developed engineeed strains that enhance Phedegradation efficiency by expressing relevant enzymes andoptimizing transport and metabolic systems. This article summarizes and analyzes theresearch progressof this emerging microbial therapy based on genetically engineered strains，identifies existing problems inthe field，and proposessolutions，aiming to provideareference for advancing the further development of PKU treatment.

[Keywords] Phenylketonuria Clinical treatmentMicrobial therapy

First-author'saddress：SchoolofBiomedical Sciences，ShandongFirstMedicalUniversity，Jinan 250117， China

doi：10.3969/j.issn.1674-4985.2025.30.040

苯丙酮尿症（PKU）是常染色体隐性遗传病，多因PAH基因突变致苯丙氨酸（Phe）代谢障碍，或四氢生物蝶呤异常影响PAH功能，引发Phe蓄积及神经损伤。（剩余12210字）