ISSN print edition: 0366-6352
ISSN electronic edition: 1336-9075
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ACY1 deficiency: long time monitoring of N-acetylated amino acids concentrations in urine of ACY1 deficient siblings by NMR

Iveta Uhliariková, Mária Matulová, Anna Šalingová, and Claudia Šebová

Institute of Chemistry, Slovak Academy of Sciences, Bratislava, Slovakia



Received: 6 October 2022  Accepted: 2 December 2022


In aminoacylase 1 deficient patients the aminoacylase-1 activity is decreased and an increased urinary excretion of specific N-acetylated derivatives of amino acids is observed. NMR spectroscopy was used for monitoring of N-acetylated amino acids (NAc-AA) concentrations in urine samples of three siblings, suspected of aminoacylase 1 deficiency, collected in regular intervals within 7 years. Analyses of two patients’ urine have shown high concentrations of NAc-Ser, NAc-Gly, NAc-Glu, NAc-GluA, NAc-Asp and NAc-Ala with slightly different ACY1 patterns and their evolution. Increased excretion of lactate was observed in both children. In the urine of the third child, with slightly increased concentrations of lactate, levels of excreted NAc-AA were very low and they did not correspond to values observed in ACY1 deficient patients.

Graphical abstract

Keywords: ACY1 deficiency; Rare diseases; N-acetylated amino acids; Concentration; NMR spectroscopy

Full paper is available at

DOI: 10.1007/s11696-022-02622-1


Chemical Papers 77 (4) 2193–2199 (2023)

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