title: Diagnosis and follow-up of cystinuria: use of proton magnetic resonance spectroscopy.
abstract: Proton Nuclear Magnetic Resonance (NMR) Spectroscopy of urine (as well as of other biological fluids) is a very powerful technique enabling multi-component analysis useful in both diagnosis and follow-up of a wide range of inherited metabolic diseases. Among these pathologies, cystinuria is characterised by accumulation in urine of four dibasic amino acids, namely lysine, arginine, ornithine and cystine; the last one, being only slightly water soluble, generates urolithiasis. The mentioned aminoacids can be detected in the urine NMR spectrum of cystinuric patients, the most abundant being the lysine (5 mM and over are often detected), whose typical signals become very high; arginine and ornithine are also usually detectable, although pathologic concentrations are lower (usually below 2mM). The proposed NMR technique is also suitable in monitoring the therapy with alpha-mercaptopropionylglycine (MPG), providing quantitation of several metabolites of interest in the follow-up of the pathology, like cystine, creatinine and citrate.
authors: Institute of Biochemistry of Macromolecules--NMR Unit, School of Medicine and Surgery, The Second University of Naples, Italy. gabriele.pontoni@unina2.it
authors: G
authors: G
authors: Pontoni
authors: F
authors: F
authors: Rotondo
authors: G
authors: G
authors: Spagnuolo
authors: M T
authors: MT
authors: Aurino
authors: M
authors: M
authors: Cartenì-Farina
authors: V
authors: V
authors: Zappia
authors: G
authors: G
authors: Lama
mesh_terms: D000293:Adolescent; D000328:Adult; D001120:Arginine / Q000652:urine; D002648:Child; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D003553:Cystine / Q000032:analysis*; D003555:Cystinuria / Q000175:diagnosis* / Q000188:drug therapy / Q000378:metabolism / Q000652:urine; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008239:Lysine / Q000652:urine; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male
chemical_list: D003553:Cystine; D001120:Arginine; D008239:Lysine