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Biochemical abnormalities found in some peroxisomal disorders[3]
| Disorder | Plasma VLFCA | Urinary pipecolic acid | Plasma phytanic acid | RBC plasmalogens | Plasma bile acid metabolites |
|---|---|---|---|---|---|
| Zellweger syndrome | ↑↑↑ | ↑↑↑ | ↑ | ↓↓↓ | ↑↑↑ |
| Neonatal adrenoleukodystrophy | ↑↑↑ | ↑↑ | ↑ | ↓↓ | ↑↑↑ |
| Ketoacyl-CoA thiolase deficiency | ↑↑↑ | ↑↑↑ | -- | -- | ↑↑↑ |
| Rhizomelic chondro dysplasia punctata | -- | -- | ↑↑ | ↓↓↓ | -- |
| X-linked adrenoleuko dystrophy | ↑↑ | -- | -- | -- | -- |
| Adult Refsum disease | -- | -- | ↑↑↑ | -- | -- |
