The malabsorption resulting from lack of bile acid has resulted in elemental formula being suggested, which are low in fat with < 3% of calories derived from long chain triglycerides (LCT). However, reduced very long chain fatty acids (VLCFA) has not been shown to reduce blood VLCFA levels, likely because humans can endogenously produce most VLCFA. Plasma VLCFA levels are decreased when dietary VLCFA is reduced in conjunction with supplementation of Lorenzo's oil (a 4:1 mixture of glyceryl trioleate and glyceryl trierucate) in X-ALD patients. Since docosahexaenoic acid (DHA) synthesis is impaired 59, DHA supplementation was recommended, but a placebo-controlled study has since showed no clinical efficacy. Due to the defective bile acid synthesis, fat soluble supplements of vitamins A, D, E, and K are recommended.
Zellweger syndrome
Rett syndrome
Asperger syndrome
Zellweger spectrum disorders
Hurler–Scheie syndrome
Scheie syndrome
Axenfeld–Rieger syndrome
Foster Kennedy syndrome