LAL Deficiency – Wolman / CESD
The following video is two mother’s first-hand experience in Early Onset LAL Deficiency. Lysosomal Acid Lipase (LAL) Deficiency happens when the body is not producing enough of an enzyme called lysosomal acid lipase (LAL). Infants, children and adults that suffer from LAL Deficiency experience a range of very serious and devastating health problems.
Extremely low levels of the LAL enzyme may cause early onset LAL Deficiency, sometimes called Wolman Disease. Early onset LAL Deficiency typically affects infants in the first year of life. The build-up of fatty material in the cells of the gut prevents the body from absorbing nutrients.
Later onset LAL Deficiency is sometimes called Cholesteryl Ester Storage Disease (CESD) and can affect children and adults. Patients experience a buildup of fatty material mostly in the liver, spleen and blood vessel walls although other body organs may be affected too. The buildup of fatty material in the liver cells may lead to an oversized liver, cirrhosis and chronic liver failure.
There are currently no approved treatments for LAL Deficiency. Synageva BioPharma Corp. is developing a recombinant form of human lysosomal acid lipase as an enzyme replacement therapy for LAL Deficiency.