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fatty acid delta-6 desaturase deficiency
Genetics:
- associated with defects in FADS2 gene
Clinical manifestations:
- corneal ulceration
- feeding intolerance
- growth failure
- marked photophobia
- skin abnormalities
Management:
- dietary supplementation with a mixture of arachidonic acid 20:4(n-6) & docosahexaenoic acid (DHA) 22:6(n-3)
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
References
UniProt :accession O95864