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
Advances and perspectives in genetically encoded biosensors for biomarker detection and theranostic circuits.
Xu J, Qi Q, Wang Q. · 2026-09-23
open access unreviewed -
2
Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria.
Lubout CMA, van Wegberg AMJ, van Adrichem-van Dam E, Jansen ME, van Steenis EM, Heiner-Fokkema MR, van Sprons… · 2026-09-17
open access unreviewed -
3
Engineered bacterial therapeutics from synthetic biology to clinical translation: A multi-database scientometric analysis, 2000-2026.
Zhou H, He J, Chen J, Ge S, Yu P, Zhang W. · 2026-08-25
open access unreviewed -
4
Synthetic biology strategies for engineering microbial therapeutics in metabolic diseases and cancer.
Onoja BA, Agada SA, Aggad WS, Almohaimeed HM, Alum EU, Abass KS, Alum BN, Uti DE. · 2026-08-14
unreviewed -
5
Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.
Batchuluun K, Batjargal K, Tsevgee A, Enkhtur A, Stipan N, Unurbat E, Chimeddorj B, Nyamdavaa K, Boldbaatar D… · 2026-08-07
open access unreviewed -
6
Parental experience and information needs following a positive newborn screening test-based neonatal diagnosis of a chronic condition: an integrative review.
Luck P, -Schmid JP, Naef R, Fringer A, Kirk S, Schlüer AB. · 2026-07-30
open access unreviewed -
7
A comprehensive review of small molecule drugs approved by the FDA in 2025: advance and prospect.
Bai YR, Li R, Zhang XH, Seng DJ, Xu Y, Zhang SY, Yuan S. · 2026-07-20
open access unreviewed -
8
Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China.
Mu J, Sun M, Li Y, Li P, Zou H. · 2026-07-09
open access unreviewed -
9
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 -
10
Current landscape of clinical trials for mRNA-based therapeutics.
Li Q, Zeng M, Lv W, Ye J, Wu S. · 2026-02-23
cited 3× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.