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Pontoni G, Rotondo F, Vacchiano TM, et al. Diet treatment of branched chain ketoaciduria studied by proton magnetic resonance spectroscopy. Amino Acids. 1996;11(1):91-7doi: 10.1007/BF00805724.
Pontoni, G., Rotondo, F., Vacchiano, T. M., Pinto, L., Perrotta, V., Pietra, D. D., Cartenì-Farina, M., & Zappia, V. (1996). Diet treatment of branched chain ketoaciduria studied by proton magnetic resonance spectroscopy. Amino acids, 11(1), 91-7. https://doi.org/10.1007/BF00805724
Pontoni, G, et al. "Diet treatment of branched chain ketoaciduria studied by proton magnetic resonance spectroscopy." Amino acids vol. 11,1 (1996): 91-7. doi: https://doi.org/10.1007/BF00805724
Pontoni G, Rotondo F, Vacchiano TM, Pinto L, Perrotta V, Pietra DD, Cartenì-Farina M, Zappia V. Diet treatment of branched chain ketoaciduria studied by proton magnetic resonance spectroscopy. Amino Acids. 1996 Mar;11(1):91-7. doi: 10.1007/BF00805724. PMID: 24178641.
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Amino Acids. 1996 Mar;11(1):91-7. doi: 10.1007/BF00805724.

Diet treatment of branched chain ketoaciduria studied by proton magnetic resonance spectroscopy.

Amino acids

G Pontoni, F Rotondo, T M Vacchiano, L Pinto, V Perrotta, D D Pietra, M Cartenì-Farina, V Zappia

Affiliations

  1. Institute of Biochemistry of Macromolecules NMR Unit, The Second University of Naples, School of Medicine and Surgery, Via S. Maria di Costantinopoli, 16, I-80138, Naples, Italy.

PMID: 24178641 DOI: 10.1007/BF00805724

Abstract

A novel nuclear magnetic resonance method is proposed for the diagnosis and follow-up of patients affected by branched chain ketoaciduria. The method allows quantitation of the branched chain amino acids (BCAA's) such as leucine, isoleucine and valine and of related keto- and hydroxy acids by means of a single spectrum. The method implies short time of analysis, as opposed to the very long time required by the techniques currently in use (amino acid analyzer combined with gaschromatography/mass spectrometry of keto- and hydroxyacids), it is easy and suitable for adjustements of the dietary treatment even on a daily basis. The case of a 15 days old newborn child, presenting muscular hypertonicity was unambiguously diagnosed in few minutes by means of one single NMR spectrum of urine. More interestingly, NMR spectra of serum in the following days were suitable for quantitating amino-, and keto acids as well as other metabolites of relevance in the follow up of the dietary treatment of the disease. After a diet lacking of BCAA's, to eliminate keto acids, a low BCAA diet was introduced, that succeeded in keeping the serum levels of the three amino acids within the normal range, while dropping the related keto acids.

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