Proton magnetic resonance spectroscopy of brain metabolites in galactosemia

Brain edema may occur in infants with galactosemia and has been associated with accumulation of galactitol. Proton magnetic resonance spectra were obtained from 12 patients (four newly diagnosed neonates and eight patients on galactose‐restricted diets, age range 1.7–47 years) and control subjects to measure brain galactitol levels in vivo and correlate them with urinary galactitol excretion. The results demonstrate that a markedly elevated brain galactitol level may be present only in newborn infants with galactosemia who exhibit massive urinary galactitol excretion.

[1]  U. Klose.  In vivo proton spectroscopy in presence of eddy currents , 1990, Magnetic resonance in medicine.

[2]  S. Provencher.  Estimation of metabolite concentrations from localized in vivo proton NMR spectra , 1993, Magnetic resonance in medicine.

[3]  S. Wehrli,et al.  Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. , 1999, Metabolism: clinical and experimental.

[4]  G. Donnell,et al.  Galactosemia: evaluation with MR imaging. , 1992, Radiology.

[5]  K. Widhalm,et al.  Diet does not ensure normal development in galactosemia. , 1997, Journal of the American College of Nutrition.

[6]  Jens Frahm,et al.  Localized proton spectroscopy using stimulated echoes. , 1987 .

[7]  R. Zimmerman,et al.  In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. , 2001, The Journal of pediatrics.

[8]  R. Gitzelmann,et al.  Galactitol and galactose-1-phosphate in the lens of a galactosemic infant. , 1967, Experimental eye research.

[9]  W. W. Wells,et al.  THE ISOLATION AND IDENTIFICATION OF GALACTITOL FROM THE BRAINS OF GALACTOSEMIA PATIENTS. , 1965, The Journal of biological chemistry.

[10]  Roland Kreis,et al.  Development of the human brain: In vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy , 1993, Magnetic resonance in medicine.

[11]  R. Gitzelmann.  Disorders of Galactose Metabolism , 1990 .

[12]  W. W. Wells,et al.  Galactitol in the tissues of a galactosemic child. , 1966, American journal of diseases of children.