The generalised peroxisomal disorders (GPDs) Zellweger syndrome (ZS), neonatal adrenoleucodystrophy (NALD), and infantile Refsum's disease (IRD) are autosomal recessive disorders associated with a failure to assemble mature peroxisomes. We confirmed the diagnosis of a GPD in eight ZS and four IRD patients (GPD1 to GPD12) biochemically by measuring very long chain fatty acids, plasmalogen biosynthesis, and catalase solubility in skin fibroblasts. One further patient (BOX-1) had the clinical phenotype of ZS, but biochemical investigations indicated an isolated deficiency of peroxisomal beta oxidation. To date a total of 10 complementation groups (CGs) for the GPDs and three further CGs for isolated beta oxidation deficiencies have been identified. Most GPD patients have been shown to belong to CG-1 (Baltimore classification); among the rarer groups, CG-4 and CG-8 predominate. We performed somatic cell hybridisation experiments on strains GPD-1 to GPD-12 using plasmalogen biosynthesis as a marker for correction and found that six ZS and three IRD patients, eight of whom were of UK origin, belonged to CG-1. Strain GPD-11, a patient of UK origin with an unusual biochemical phenotype, belonged to CG-8. Strains GPD-10 and GPD-12 were derived from ZS patients of Arabian and Pakistani origin and belonged to the rarer CGs 2 and 7, respectively. Furthermore, complementation analysis using beta oxidation as a marker showed that BOX-1 had an isolated deficiency of the bifunctional protein.
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