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Peroxisomes are ubiquitous cellular organelles that function to rid the cell of toxic material. They contain a number of oxidative enzymes and have an important role in the metabolism of fatty acid molecules. Peroxisomal disorders result in abnormalities of lipid metabolism.
• Zellweger syndrome
• Neonatal adrenoleucodystrophy
• Infantile Refsum disease
• Hyperpipecolic acidaemia
• Rhizomelic chondrodysplasia punctata
• DHAP acyltransferase deficiency
• Acyl-CoA oxidase deficiency
• Bifunctional enzyme deficiency
• X-linked adrenoleucodystrophy*
• Primary hyperoxaluria –Type 1*
• Disorders that do not have ‘severe peroxisome phenotype’.
Most peroxisomal disorders are associated with ‘severe peroxisome phenotype’ and share many common features including:
• severe neurodevelopmental delay;
• hepatic dysfunction;
• impaired hearing or vision;
• Sudanophilic leucodystrophy.
Diagnosis is made with liver biopsy and electron microscopy morphologi-cal studies. Blood analysis demonstrates characteristic biochemical abnor-malities (particularly very-long chained fatty acid, phytanic acid, and bile salt metabolites).
The classic peroxisomal disorder, due to defect in peroxisome biogenesis. ‘Severe peroxisome phenotype’; leads to death within few months of birth.
Severe peroxisome phenotype with retinal degeneration, decreased plas-ma cholesterol, increased plasma phytanate. Survival to early childhood.
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