| Popis: |
The possibility of gene therapy for patients with Menkes or Gaucher's disease has been improved by the isolation of a promising candidate gene and production of a mouse model, respectively. Many mutations of mitochondrial DNA are being associated with mitochondrial encephalomyopathies, and protection of the resultant biochemical deficiency can be achieved with a remarkably low percentage of normal mitochondrial DNA. The correlation between mutation, biochemical deficiency, and neurologic consequence, however, remains frustratingly obscure. Gas chromatography-mass spectrometric urinalysis is becoming increasingly important in the diagnosis of metabolic disorders and is revealing new and unexpected deficiencies. |
