Lysosomal Acid Lipase Deficiency

Lysosomal acid lipase deficiency (LAL-D) is a rare, inherited lysosomal storage disorder wherein a child is unable to properly metabolize fats (lipids). This condition typically leads to the accumulation of lipid-laden macrophages in the reticuloendothelial system, which in turn can cause a number of health problems, including steatosis, hepatosplenomegaly, cirrhosis, and/or lysosomal membrane instability.

LAL-D is caused by a mutation in the LIPA gene, which is responsible for producing lysosomal acid lipase, an enzyme involved in lipid metabolism. This mutation results in decreased or absent activity of the enzyme, causing the fatty materials to accumulate. The severity and age of onset of the disorder depends on the extent of the LIPA mutation.

The symptoms of LAL-D include abnormal liver function tests, elevated levels of triglycerides (fat in the blood), hepatomegaly (enlarged liver), and hepatic fibrosis. In some cases, additional signs and symptoms of the disorder may include jaundice, steatorrhea (exertion of fatty stools), abdominal pain, anemia, splenomegaly (enlarged spleen), dyslipidemia (abnormal levels of lipids in the blood), and decreased appetite.

Currently, there is no cure for LAL-D. However, the disorder can be managed to some degree with dietary modifications, enzyme replacement therapy, and medications that promote fat metabolism.

Treatment of LAL-D:

Dietary Modifications: Patients with LAL-D should follow a low fat diet to limit the amount of dietary fat that they consume.
Enzyme Replacement Therapy: Enzyme replacement therapy is a form of treatment for LAL-D that involves introducing a functional of LIPA in the body.
Medications: Medications that promote fat metabolism, such as fenofibrate, may be prescribed.

If you suspect that your child may have LAL-D, you should speak to your pediatrician. Depending on the severity of the disorder, your child's doctor may refer you to a geneticist or metabolic specialist for further testing and diagnosis.