Lysosomal Acid Lipase Deficiency | Symptoms & Causes
What are the symptoms of lysosomal acid lipase deficiency?
Children with infantile-onset LALD generally begin exhibiting signs of the disease shortly after birth as fat molecules begin to accumulate throughout the body.
Symptoms may include:
- Enlargement of the liver and spleen (hepatosplenomegaly)
- Yellowing of the skin and whites of the eyes (jaundice)
- Developmental delay
- Poor feeding
- Fatty stools (steatorrhea)
- Vomiting
- Diarrhea
- Poor weight and height gain (failure to thrive)
- Low iron (anemia)
Children with late-onset LALD show great variation in their symptoms and the age at which signs of the disease begin to show. While many have their first symptoms in mid-childhood, some first develop symptoms in adolescence or even adulthood.
Symptoms and complications may include:
- Enlargement of the liver and spleen (hepatosplenomegaly)
- Fatty stools (steatorrhea)
- Vomiting
- Diarrhea
- High cholesterol (hypercholesteremia)
- Liver disease
- Fatty deposits in the arteries (atherosclerosis)
What causes lysosomal acid lipase deficiency?
LALD is caused by mutations in the LIPA gene, which contains instructions for the production of an enzyme known as lysosomal acid lipase. This enzyme normally functions in the lysosomes of cells to break down various types of fats. Mutations in the LIPA gene result in a deficiency of this critical enzyme, resulting in an accumulation of fat molecules in the body, which eventually leads to dysfunction.
This genetic condition is inherited in an autosomal recessive pattern, which means that an affected child has received one defective copy of the LIPA gene from each of their parents.
The severity of LALD depends on the degree of deficiency of lysosomal acid lipase in the body’s cells. Children with infantile-onset LALD often have no lysosomal acid lipase and thus have a severe form of the disease. Children with late-onset LALD often have low levels of lysosomal acid lipase, which allows for the breakdown of some fat molecules, but not to the degree necessary for proper cellular function. Because of this, the disease is typically less severe.
Lysosomal Acid Lipase Deficiency | Diagnosis & Treatments
Treatment for lysosomal acid lipase deficiency
Current approaches to both types of LALD are tailored to specific patients and may include enzyme replacement therapy (ERT) and targeted symptom management. Treatment plans require interdisciplinary collaboration and depend greatly on a patient’s specific disease presentation and a variety of additional factors.
How we care for late-onset lysosomal acid lipase deficiency
At the Boston Children’s Lysosomal Storage Disorder (BoLD) Program, our team of providers is committed to the care of complex patients. As part of Boston Children’s Hospital, we are prepared to meet the challenge of providing multifaceted care by partnering with you and your child to deliver direct care in our BoLD clinic. We work with the broad array of world-class specialists at Boston Children’s to optimize the care we provide your child with LALD.
