title: In vivo study of brain metabolism in galactosemia by 1H and 31P magnetic resonance spectroscopy.
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.
authors.affiliation: Universität Münster, Institut für Physikalische Chemie, Germany.
authors.forename: H E
authors.initials: HE
authors.lastname: Möller
authors.forename: K
authors.initials: K
authors.lastname: Ullrich
authors.forename: P
authors.initials: P
authors.lastname: Vermathen
authors.forename: G
authors.initials: G
authors.lastname: Schuierer
authors.forename: H G
authors.initials: HG
authors.lastname: Koch
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000378:metabolism*; D005260:Female; D004376:Galactitol / Q000378:metabolism; D005693:Galactosemias / Q000378:metabolism*; D005695:Galactosephosphates / Q000378:metabolism; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male
chemical_list: D005695:Galactosephosphates; D004376:Galactitol; C029973:galactose-1-phosphate