Inherited metabolic diseases of the nervous system.
This overview was designed primarily to provide examples of hereditary metabolic disorders that result in nervous system dysfunction. Some of the more frequently encountered pathological conditions were selected in order to illustrate the mechanisms and the consequences of the metabolic derangements. Therapeutic approaches for the correction of such disorders are discussed where it appears appropriate. In time the precise etiology for those eponymous genetic conditions with stereotyped pathologic and clinical manifestations such as Huntington's chorea (79) and Friedreich's ataxia (80) will be disclosed. It is possible that some forms of epilepsy (81) and perhaps certain psychiatric disturbances (82) will be shown to be inherited metabolic disorders. As our knowledge and skill increase, this logic may eventually be extended to biochemical explanations of variation in individual skills and talents. Certainly innovative extrapolation and novel research directions will be necessary to provide an understanding of these differences. However, it is axiomatic in research that each useful contribution serves largely as a point of departure for further accomplishments.
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism; D054880:Aspartylglucosaminuria; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism; D005733:Gangliosidoses / Q000378:metabolism; D005978:Glutathione / Q000378:metabolism; D005998:Glycine / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000378:metabolism / Q000628:therapy; D008375:Maple Syrup Urine Disease / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000201:enzymology; D009083:Mucopolysaccharidoses / Q000378:metabolism; D009419:Nerve Tissue Proteins / Q000378:metabolism; D009422:Nervous System Diseases / Q000378:metabolism*; D010649:Phenylalanine / Q000378:metabolism; D010661:Phenylketonurias / Q000378:metabolism
D009419:Nerve Tissue Proteins; D010649:Phenylalanine; D005978:Glutathione; D005998:Glycine