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Fluorescence-based Monitoring of PAD4 Activity via a Pro-fluorescence Substrate Analog
Published on: November 5, 2014
[Protein intolerance with lysinuria. Value of orotic aciduria in adjusting treatment with citrulline]
L de Parscau1, C Vianey-Liaud, M Hermier
1L'Unité d'Etudes des Maladies Métaboliques, Hôpital Debrousse, Lyon.
Abstract:
A new case of lysinuric protein intolerance is described in a 14 year-old Maghrebian child who presented with growth failure, vertebral osteoporosis, aversion to proteins and digital hippocratism, rarely described in this disease. Orotic aciduria was studied after a protein load with and without citrulline supplement and during the course of a 11 month-treatment. There was a clear relationship between orotic aciduria, protein intake and citrulline supplementation. Orotic aciduria appears to be very useful to adjust the treatment.
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