Literature DB >> 822514

Inherited metabolic diseases of the nervous system.

R O Brady.   

Abstract

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.

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Year:  1976        PMID: 822514     DOI: 10.1126/science.822514

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  6 in total

1.  Abnormal amino acid metabolism and brain protein synthesis during neural development.

Authors:  J V Hughes; T C Johnson
Journal:  Neurochem Res       Date:  1978-08       Impact factor: 3.996

Review 2.  A research framework for evaluating the promotion of mental health and prevention of mental illness.

Authors:  L Eisenberg
Journal:  Public Health Rep       Date:  1981 Jan-Feb       Impact factor: 2.792

3.  Antibody-mediated targeting of alpha-1,4-glucosidase-albumin polymers to rat hepatocytes. A model for enzyme therapy.

Authors:  M J Poznansky; D Bhardwaj
Journal:  Biochem J       Date:  1981-04-15       Impact factor: 3.857

Review 4.  Steroid hormones and the brain: linking "nature" and "nurture".

Authors:  B S McEwen
Journal:  Neurochem Res       Date:  1988-07       Impact factor: 3.996

5.  L-glucosylceramide: synthesis, properties, and resistance to catabolism by glucocerebrosidase in vitro.

Authors:  A E Gal; P G Pentchev; J M Massey; R O Brady
Journal:  Proc Natl Acad Sci U S A       Date:  1979-07       Impact factor: 11.205

Review 6.  Diseases of phenylalanine metabolism.

Authors:  C E Parker
Journal:  West J Med       Date:  1979-10
  6 in total

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