Adrenoleukodystrophy and other peroxisomal disorders that affect the nervous system, including new observations on L-pipecolic acid oxidase in primates

Brain Dev. 1989;11(2):80-90. doi: 10.1016/s0387-7604(89)80074-9.

Abstract

Impaired nervous system function in childhood is encountered in 10 separate disorders of the peroxisome. Peroxisomal disorders are subdivided into three major groups. In group 1 there is failure to form the organelle and impairment of multiple peroxisomal functions. In group 3 peroxisome structure is intact and the defect involves a single enzyme. In group 2 (rhizomelic chondrodysplasia punctata) peroxisome structure is probably intact, but at least 2 peroxisomal enzymes fail to function normally. We present an overview of this newly recognized field which is so pertinent to brain development. In addition, we present recent and new data about the biochemical defect, genetics and therapy of X-linked adrenoleukodystrophy; about the normal metabolism of L-pipecolic acid in primates and its disturbance in the Zellweger syndrome, and about the prenatal diagnosis of peroxisomal disorders.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adrenoleukodystrophy / genetics
  • Adrenoleukodystrophy / metabolism*
  • Adult
  • Animals
  • Child
  • Diffuse Cerebral Sclerosis of Schilder / metabolism*
  • Female
  • Humans
  • Male
  • Microbodies / metabolism*
  • Microbodies / pathology
  • Middle Aged
  • Nervous System Diseases / genetics
  • Nervous System Diseases / metabolism*
  • Oxidoreductases Acting on CH-NH Group Donors / metabolism*
  • Primates / metabolism*

Substances

  • Oxidoreductases Acting on CH-NH Group Donors
  • L-pipecolate dehydrogenase