Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families

Am J Med Genet. 1999 Aug 27;85(5):502-10.


We describe the main clinical and biochemical findings in 15 patients with peroxisomal disorders, together with the results of 11 prenatal investigations for Zellweger syndrome. The initial laboratory diagnosis depended in most cases on demonstration of elevated very long chain fatty acids in plasma, but follow-up studies using cultured fibroblasts were essential for complete classification. The patient group comprises nine cases of Zellweger syndrome, one of neonatal adrenoleucodystrophy, two of infantile Refsum disease, one of bifunctional protein deficiency, and two of rhizomelic chondrodysplasia punctata. The study illustrates the clinical and biochemical variability of this group of patients and the detailed studies that are required for classification.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cells, Cultured
  • Child
  • Child, Preschool
  • Female
  • Fibroblasts / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Peroxisomal Disorders / diagnosis*
  • Peroxisomal Disorders / embryology
  • Peroxisomal Disorders / genetics*
  • Phenotype
  • Phytanic Acid / blood
  • Pregnancy
  • Prenatal Diagnosis*
  • Ultrasonography, Prenatal
  • Zellweger Syndrome / diagnosis
  • Zellweger Syndrome / embryology
  • Zellweger Syndrome / genetics


  • Phytanic Acid