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. 1995;154(7 Suppl 2):S8-13.
doi: 10.1007/BF02143796.

In vivo study of brain metabolism in galactosemia by 1H and 31P magnetic resonance spectroscopy

H E Möller  1 , K Ullrich, P Vermathen, G Schuierer, H G Koch
Affiliations

In vivo study of brain metabolism in galactosemia by 1H and 31P magnetic resonance spectroscopy

H E Möller et al. Eur J Pediatr. 1995.

Abstract

In order to further evaluate different hypotheses concerning brain metabolism in galactosemia, six adult patients aged 18-29 years with classical galactosemia under dietary treatment underwent localized 1H and 31P magnetic resonance spectroscopy (MRS) in addition to conventional T1- and T2-weighted MRI. Galactose-1-phosphate levels in erythrocytes were 1.1-3.7 mg/dl, plasma concentrations of galactitol ranged from 8.4-14.2 mumol/l. Imaging revealed abnormal peripheral myelination in five and enlargement of lateral ventricles in two patients. Brain galactitol in parieto-occipital white matter was below detectability of 1H MRS leading to the assumption that brain concentrations of the free metabolite was well below 1 mmol/kg. Signal intensities of free myo-inositol, which was postulated to be indicative of changes in the second messenger pathway, were within the normal range. MRS data revealed a normal energy status of the brain. In summary 1H and 31P MRS indicated normal metabolite concentrations as compared to healthy controls.

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