A Sex-linked Disorder with Mental and Physical Retardation Characterized by Cerebrocortical Atrophy and Increase of Glutamic Acid in the Cerebrospinal Fluid
- 1 January 1964
- journal article
- Published by Tohoku University Medical Press in The Tohoku Journal of Experimental Medicine
- Vol. 83 (3) , 261-269
- https://doi.org/10.1620/tjem.83.261
Abstract
A case of mental and physical retardation inherited as a sex-linked recessive trait is presented. Laboratory findings revealed an elevated level of glutamic acid, diminished level of glutamine in the cerebrospinal fluid, mild generalized aminoaciduria and galactosuria. Pneumoencephalogram indicated a remarkable atrophy of the cerebral cortex.Keywords
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