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Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease
Neurology
|December 1, 1984
Insights
Phytanic acid oxidase deficiency in Refsum's disease correlates with high plasma phytanic acid. Infantile Refsum's disease uniquely shows elevated hexacosanoic acid (C26) in fibroblasts and plasma.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Genetics
Background:
- Refsum's disease is a rare genetic disorder.
- It involves impaired metabolism of phytanic acid.
- Phytanic acid accumulation leads to neurological and other symptoms.
Observation:
- Patients with infantile and adult Refsum's disease exhibit low phytanic acid oxidase activity in skin fibroblasts.
- Plasma phytanic acid levels are elevated in both forms of the disease.
- Cultured skin fibroblasts and plasma from infantile Refsum's disease patients show increased hexacosanoic acid (C26) levels.
Findings:
- The elevation of hexacosanoic acid (C26) is specific to infantile Refsum's disease, distinguishing it from the adult form.
- This finding challenges the previous assumption that elevated C26 is exclusive to adrenoleukodystrophy or Zellweger's syndrome.
- Low phytanic acid oxidase activity is a common biochemical marker for Refsum's disease.
Implications:
- The distinct biochemical profile in infantile Refsum's disease aids in differential diagnosis.
- Understanding these metabolic differences can inform targeted therapeutic strategies.
- Further research into the C26 accumulation pathway in Refsum's disease is warranted.
Abstract:
In infantile and adult Refsum's disease, the activity of phytanic acid oxidase is low in skin fibroblasts, but plasma phytanic acid levels are high. Cultured skin fibroblasts and plasma from patients with the infantile, but not the adult, disorder show marked increases in the concentration of the long-chain fatty acid, hexacosanoic acid (C26), a feature once thought pathognomonic of adrenoleukodystrophy or Zellweger's syndrome.