NewsMETABOLOMICS : OFFICIAL JOURNAL OF THE METABOLOMIC SOCIETYSaturday, March 7, 2026 · March 7, 2026
Metabolomic profiling in phenylketonuria: a systematic review of human studies.
WHY IT MATTERS
Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
Phenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine (Phe). Raised Phe levels can result in neurocognitive deficits, intellectual disabilities, and behavioral or psychiatric disorders. To condu...
Related conditions
Related news
Int J Circumpolar Health · -222 days ago
A population-based legacy study of myasthenia gravis in Iceland: insights from a small Arctic nation
Published in Int J Circumpolar Health. Hjaltason H et al.…
Ther Adv Rare Dis · -192 days ago
Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy
Published in Ther Adv Rare Dis. Mitha A et al.…
Health Inf Sci Syst · -192 days ago
PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy
Published in Health Inf Sci Syst. Zhai W et al.…
J Allergy Clin Immunol Glob · -39 days ago
Emerging trends and research hot spots in inborn error of immunity: A bibliometric perspective
Published in J Allergy Clin Immunol Glob. Alblooshi H et al.…