NEUROLOGIC COMPLICATIONS OF INHERITED MITOCHONDRIAL ABNORMALITY, AND NEUROLOGIC CONSEQUENCES OF INBORN-ERRORS OF METABOLISM

The possibility of gene therapy for patients with Menkes or Gaucher's disease has been improved by the isolation of a promising candidate ge ne and production of a mouse model, respectively. Many mutations of mi tochondrial DNA are being associated with mitochondrial encephalomyopa thies, and protection of the resultant biochemical deficiency can be a chieved with a remarkably low percentage of normal mitochondrial DNA. The correlation between mutation, biochemical deficiency, and neurolog ic consequence, however, remains frustratingly obscure. Gas chromatogr aphy-mass spectrometric urinalysis is becoming increasingly important in the diagnosis of metabolic disorders and is revealing new and unexp ected deficiencies.