Hyperprolinaemia type I and white matter disease: Coincidence or causal relationship
- 1 October 1989
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 149 (1) , 40-42
- https://doi.org/10.1007/bf02024332
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.This publication has 18 references indexed in Scilit:
- Atypical presentation and neuropathological studies in 3‐hydroxy‐3‐methylglutaryl–CoA lyase deficiencyAnnals of Neurology, 1986
- Intermediäre Form einer AhornsirupkrankheitKlinische Padiatrie, 1986
- Hyperprolinaemia and gyrate atrophy of the choroid and retina in members of the same family.British Journal of Ophthalmology, 1985
- Information von der Netzhaut durch ElektroretinografieAlbrecht von Graefes Archiv für Ophthalmologie, 1979
- Type I Hyperprolinemia in a Family Suffering from Aniridia and Severe Dystrophia of Ocular TissuesOphthalmologica, 1975
- Hyperprolinemia I: Study of a large familyThe Journal of Pediatrics, 1973
- Hereditary Renal Disease with Neurosensory Hearing Loss, Prolinuria and IchthyosisThe Lancet Healthy Longevity, 1968
- Hyperprolinaemia in two successive ?enerations of a North American Indian familyAnnals of Human Genetics, 1968
- HYPERPROLINÆMIA AND HEREDITARY NEPHRITISThe Lancet, 1964
- Glutamic γ-Semialdehyde and Δ1-Pyrroline-5-carboxylic Acid, Intermediates in the Biosynthesis of Proline1,2Journal of the American Chemical Society, 1952