A Sex-linked Disorder with Mental and Physical Retardation Characterized by Cerebrocortical Atrophy and Increase of Glutamic Acid in the Cerebrospinal Fluid

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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.