Orphanet Journal of Rare Diseases· 2026Q1

Real-world clinical use of large neutral amino acids in phenylketonuria: a nationwide survey from Turkey under reimbursement constraints

Engi̇n Köse, Tanyel Zübarioğlu, Aynur Küçükçongar Yavaş, Özlem Ünal et al.

0citations
Q1SCImago
2026year

Short summary

In Turkey, 95% of pediatric metabolic specialists use large neutral amino acids (LNAA) for phenylketonuria (PKU), primarily for dietary non-compliance and older patients, but reimbursement limits preferred treatment strategies.

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Clinical BiochemistryBiochemistry, Genetics and Molecular Biology