title: [Relation between metabolic amino acid defect and familial occurring epilepsy].
abstract: Within the framework of amino-aciduria research on familial epilepsy the authors describe the clinical picture, E. E. G., and biochemical urine findings for six members of one family. Three brothers and sisters suffered from oligophrenia and epileptic fits. The influence of therapy was also followed in the youngest patient. The authors stress the need for examining the urine for amino-aciduria in some cases of genuine epilepsy especially of a familial character. What is also emphasized is the necessity of employing a precise biochemical method of examination. The high-voltage electrophoresis in combination with paper chromatography was used. It was by using this particular method that the authors were able to observe variations in the elimination through urine of both free and peptide-bound amino acids in the parents as well as in three diseased children.
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000596:Amino Acids / Q000652:urine; D002648:Child; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree
chemical_list: D000596:Amino Acids
vernacular_title: Die Beziehung zwischen dem metabolischen Aminosäurendefekt und der familiär vorkommenden Epilepsie.