We have found the unconjugated acid 3β,5α,6β-trihydroxycholan-24-oic acid to be elevated also in patients with the autosomal recessive lysosomal storage disorder, lysosomal acid lipase deficiency (LALD), caused by mutations in the LIPA (lysosomal acid lipase) gene [45]. Here, LIPA is linked to lysosomal acid lipase deficiency.