Rare Diseases Symptoms Automatic Extraction

[Clinical and molecular aspects of peroxisome-deficient disorders].

[neonatal adrenoleukodystrophy]

Peroxisome-deficient disorders including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) are characterized by the absence of peroxisomes associated with secondary multiple enzyme deficiencies and by a defect in the neuronal migration. Collaborative complementation studies revealed the presence of at least 9 genetic groups among these disorders. Clinical phenotypes did not correlate with the genetic grouping. Responsible gene for one of these groups (group F) was determined as peroxisome assembly factor-1 (PAF-1) by the functional cloning using peroxisome-deficient CHO cell mutant. A patient of group F was a homozygote with C to T transitions in PAF-1 gene which resulted in a nonsense mutation. These results will pave the way for the elucidation of mechanisms of peroxisome biogenesis and the pathophysiology of neuronal migration.

Diseases presenting "neuronal migration" symptom

  • kallmann syndrome
  • neonatal adrenoleukodystrophy
  • pyruvate dehydrogenase deficiency
  • zellweger syndrome

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