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Infantile Refsum's disease: a peroxisomal storage disorder?
Clinical and Experimental Neurology
|January 1, 1985
Summary
This study reports a case of infantile phytanic acid storage disease with unusual biochemical findings. The patient
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Infantile phytanic acid storage disease is a rare metabolic disorder.
- Characterized by neurological decline, ataxia, deafness, retinitis pigmentosa, and hepatomegaly.
Observation:
- An 18-month-old infant presented with developmental arrest and progressive neurological symptoms.
- Biochemical tests showed elevated phytanic acid and deficient phytanic acid oxidase.
- Liver biopsy findings were consistent with infantile phytanic acid storage disease.
Findings:
- Elevated plasma pipecolic acid and long-chain fatty acid ratios were unexpectedly observed.
- These findings are typically associated with Zellweger syndrome and adrenoleukodystrophy.
- Suggests a potential fundamental defect in the peroxisomal enzyme system.
Implications:
- This case expands the known biochemical spectrum of phytanic acid storage disease.
- Highlights the complexity of peroxisomal disorders and potential overlaps.
- Further research into peroxisomal enzyme defects is warranted.