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)

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis