title: Hyperprolinaemia type I and white matter disease: coincidence or causal relationship?
abstract: We describe a 10-year-old boy with hyperprolinaemia type I and severe neurological abnormalities (mental retardation, cerebral palsy, epilepsy, nystagmus). Magnetic resonance imaging showed diffuse white matter involvement and electroretinography confirmed tapetoretinal degeneration. In view of reports in the literature, hyperprolinaemia type I may not be a benign condition, as usually assumed, but may lead to marked neurological abnormalities, particularly in affected males.
authors.affiliation: University Children's Hospital, Zürich, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Steinlin
authors.forename: E
authors.initials: E
authors.lastname: Boltshauser
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
authors.forename: W
authors.initials: W
authors.lastname: Wichmann
authors.forename: G
authors.initials: G
authors.lastname: Niemeyer
mesh_terms: D001927:Brain Diseases / Q000150:complications* / Q000175:diagnosis / Q000209:etiology; D002547:Cerebral Palsy / Q000150:complications* / Q000175:diagnosis / Q000209:etiology; D002648:Child; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000150:complications* / Q000175:diagnosis / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D011392:Proline / Q000097:blood*; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000175:diagnosis / Q000209:etiology; D014057:Tomography, X-Ray Computed
chemical_list: D011392:Proline