Phenylketonuria
Enzyme or protein defect
Phenylalanine hydroxylase (or BH4 synthesis/recycling)
Accumulates or becomes deficient
Phenylalanine; phenylketones
Key features
Intellectual disability, musty odour, hypopigmentation, eczema, seizures
Management
Phe-restricted diet, Tyr supplement, sapropterin; avoid aspartame
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
Engineered bacteria in disease diagnosis and therapy: A synthetic biology perspective.
Shen Y, Lu SM, Yang L, Li Y, Zhang Y, Liang LG. · 2026-06-06
open access unreviewed -
2
Current landscape of clinical trials for mRNA-based therapeutics.
Li Q, Zeng M, Lv W, Ye J, Wu S. · 2026-02-23
cited 2× open access unreviewed -
3
Probiotic extracellular vesicles reprogram macrophage immunometabolism: From gut crosstalk to host health.
Li Y, Liu Y, Wei X, Wang C, Zahoor Khan M, Ma Q. · 2026-01-11
cited 2× open access unreviewed -
4
Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment.
Li H, Gao S, Li S, Zhao Z, Fu X, Zhu J, Feng J, Tang W, Wu D, Kong X. · 2026-01-05
open access unreviewed -
5
Living with phenylketonuria in adulthood.
Haitjema S, Timmenga JS, Lubout CMA, Withaar FK, Wolffenbuttel BHR, van Spronsen FJ. · 2026-05-26
unreviewed -
6
Behavioral Phenotyping of the Pah<sup>enu2</sup> Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.
Cao J, Kruizinga L, Hovens IB, van der Goot E, Havekes R, van der Zee EA. · 2026-09-01
unreviewed -
7
Examining the role of social workers within clinical metabolic genetics care.
Shim S, Cory D, Wixson G, Hata A, Werner-Lin A. · 2026-06-08
open access unreviewed -
8
Machine learning models for reducing false positives in Fluorometric newborn screening of phenylketonuria: Development, validation, and clinical application.
Gao Y, Duan G, Zhang W, Zhan Z, Huang F, Zhong L, Xie S, Yu W, Wu B, Liu W. · 2026-06-01
unreviewed -
9
Is Phenylalanine Restricted Dietary Treatment in Phenylketonuria Associated with Disordered Eating: A Systematic Review.
Evans S, Ilgaz F, MacDonald A. · 2026-08-06
unreviewed -
10
Decentralized rare disease studies in Germany: first results and hurdles of secondary use of patient data.
Zoch M, Gierschner C, Weidner J, Sedlmayr M, Müller G, Choukair D, Hoffmann GF, Toepfner N, Berner R, Prasser… · 2026-08-12
unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.