Peroxisomal disorders: Clinical and biochemical studies in 15 children andprenatal diagnosis in 7 families

We describe the main clinical and biochemical findings in 15 patients with peroxisomal disorders, together with the results of 11 prenatal investigati ons for Zellweger syndrome, The initial laboratory diagnosis depended in mo st cases on demonstration of elevated very long chain fatty acids in plasma , but follow-up studies using cultured fibroblasts were essential for compl ete classification. The patient group comprises nine cases of Zellweger syn drome, one of neonatal adrenoleucodystrophy, two of infantile Refsum diseas e, one of bifunctional protein deficiency, and two of rhizomelic chondrodys plasia punctata, The study illustrates the clinical and biochemical variabi lity of this group of patients and the detailed studies that are required f or classification. (C) 1999 Wiley-Liss, Inc.