In the course of normal life, the LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase, enzymes which are special biochemical tools. Lysosomal acid lipase is found in the tissues of the body and it breaks down fats (lipids). The lipids produced are used by the body or transported to the liver for removal. People with LAL D cannot make enough of the enzyme lysosomal acid lipase, without sufficient levels of lysosomal acid lipase the normal break down of fats cannot take place and the fat cells accumulate in the tissues in the body, which typically causes liver disease.
Lysosomal acid lipase deficiency (LAL D) is a rare genetic disease that is characterised by problems in the breakdown and use of fats and cholesterol in the body.
Read on for information about the condition or see the latest updates and resources.
Frequently asked questions
Latest updates
Condition
Update for patients with late onset LAL D (Lysosomal acid lipase deficiency)
Despite best efforts, NICE was unable to make a recommendation for the use of sebelipase alfa in LAL-D patients with non-Wolman disease.
26/06/2024
Condition
NICE approves life-saving treatment for children with infantile lysosomal acid lipase deficiency
The MPS Society is delighted to announce that sebelipase alfa (Kanuma®) has been recommended by NICE as an option for long-term enzyme replacement therapy for people with infantile lysosomal acid lipase deficiency.
27/11/2023
Condition
NICE unfortunately leans towards a ‘no’ for the treatment of early onset LAL D (Wolman disease)
NICE (National Institute of Clinical Excellence), the drug decision making body, have publicly released their interim decision today not...
05/06/2023
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