Presence of plasma branched-chain fatty acids in multineuronal degeneration, hepatosplenomegaly and adrenocortical insufficiency

@article{Yao1982PresenceOP,
  title={Presence of plasma branched-chain fatty acids in multineuronal degeneration, hepatosplenomegaly and adrenocortical insufficiency},
  author={Jeffrey K. Yao and I. Jardine and P. Dyck},
  journal={Journal of the Neurological Sciences},
  year={1982},
  volume={55},
  pages={185-195}
}
We have previously reported a unique disorder in two brothers with multi-system neuronal degeneration, hepatosplenomegaly and adrenocortical deficiency. The clinical features were different from Refsum's disease. Biochemical analysis suggested that a metabolic defect of the omega 6 polyenoic fatty acid pathway may be involved. In the present study, were have further identified by gas chromatography-mass spectrometry two branched-chain fatty acids, phytanate and pristanate, in these two patients… Expand

References

SHOWING 1-10 OF 24 REFERENCES
Lipid abnormalities in hereditary neuropathy Part 1. Serum non-polar lipids
Refsum's disease: characterization of the enzyme defect in cell culture.
Occurrence of novel branched-chain fatty acids in Refsum's disease.
The fatty acid composition of skin and plasma lipids in Refsum's disease.
Studies on the metabolic error in Refsum's disease.
Alpha-decarboxylation, an important pathway for degradation of phytanic acid in animals.
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